Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	7175
Gene name	Translocated promoter region, nuclear basket protein
Gene symbol	TPR
Synonyms (NCBI Gene)	MRT79
Chromosome	1
Chromosome location	1q31.1
Summary	This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRN

137 Show/Hide all (137)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020054	hsa-miR-375	Microarray	20215506
MIRT043991	hsa-miR-378a-5p	CLASH	23622248
MIRT040002	hsa-miR-615-3p	CLASH	23622248
MIRT035929	hsa-miR-1180-3p	CLASH	23622248
MIRT533546	hsa-miR-1285-3p	PAR-CLIP	22012620
MIRT533545	hsa-miR-3187-5p	PAR-CLIP	22012620
MIRT533544	hsa-miR-5189-5p	PAR-CLIP	22012620
MIRT533543	hsa-miR-612	PAR-CLIP	22012620
MIRT533542	hsa-miR-6860	PAR-CLIP	22012620
MIRT533541	hsa-miR-4486	PAR-CLIP	22012620
MIRT533540	hsa-miR-378g	PAR-CLIP	22012620
MIRT533539	hsa-miR-6721-5p	PAR-CLIP	22012620
MIRT533538	hsa-miR-4314	PAR-CLIP	22012620
MIRT533537	hsa-miR-224-5p	PAR-CLIP	22012620
MIRT533536	hsa-miR-4760-3p	PAR-CLIP	22012620
MIRT533535	hsa-miR-370-5p	PAR-CLIP	22012620
MIRT533534	hsa-miR-664a-3p	PAR-CLIP	22012620
MIRT533533	hsa-miR-5696	PAR-CLIP	22012620
MIRT533532	hsa-miR-579-3p	PAR-CLIP	22012620
MIRT533531	hsa-miR-664b-3p	PAR-CLIP	22012620
MIRT533530	hsa-miR-8081	PAR-CLIP	22012620
MIRT533529	hsa-miR-30a-3p	PAR-CLIP	22012620
MIRT533528	hsa-miR-30d-3p	PAR-CLIP	22012620
MIRT533527	hsa-miR-30e-3p	PAR-CLIP	22012620
MIRT446048	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT446047	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT446045	hsa-miR-4307	PAR-CLIP	22100165
MIRT439398	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439398	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT533529	hsa-miR-30a-3p	PAR-CLIP	27292025
MIRT533529	hsa-miR-30a-3p	PAR-CLIP	27292025
MIRT533528	hsa-miR-30d-3p	PAR-CLIP	27292025
MIRT533528	hsa-miR-30d-3p	PAR-CLIP	27292025
MIRT533527	hsa-miR-30e-3p	PAR-CLIP	27292025
MIRT533527	hsa-miR-30e-3p	PAR-CLIP	27292025
MIRT533546	hsa-miR-1285-3p	PAR-CLIP	22012620
MIRT533545	hsa-miR-3187-5p	PAR-CLIP	22012620
MIRT533544	hsa-miR-5189-5p	PAR-CLIP	22012620
MIRT533543	hsa-miR-612	PAR-CLIP	22012620
MIRT533542	hsa-miR-6860	PAR-CLIP	22012620
MIRT533541	hsa-miR-4486	PAR-CLIP	22012620
MIRT533540	hsa-miR-378g	PAR-CLIP	22012620
MIRT533539	hsa-miR-6721-5p	PAR-CLIP	22012620
MIRT533538	hsa-miR-4314	PAR-CLIP	22012620
MIRT533537	hsa-miR-224-5p	PAR-CLIP	22012620
MIRT533536	hsa-miR-4760-3p	PAR-CLIP	22012620
MIRT533535	hsa-miR-370-5p	PAR-CLIP	22012620
MIRT533534	hsa-miR-664a-3p	PAR-CLIP	22012620
MIRT533533	hsa-miR-5696	PAR-CLIP	22012620
MIRT533532	hsa-miR-579-3p	PAR-CLIP	22012620
MIRT533531	hsa-miR-664b-3p	PAR-CLIP	22012620
MIRT533530	hsa-miR-8081	PAR-CLIP	22012620
MIRT533529	hsa-miR-30a-3p	PAR-CLIP	22012620
MIRT533528	hsa-miR-30d-3p	PAR-CLIP	22012620
MIRT533527	hsa-miR-30e-3p	PAR-CLIP	22012620
MIRT446048	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT446047	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT446045	hsa-miR-4307	PAR-CLIP	22100165
MIRT1450157	hsa-miR-1236	CLIP-seq
MIRT1450158	hsa-miR-128	CLIP-seq
MIRT1450159	hsa-miR-146a	CLIP-seq
MIRT1450160	hsa-miR-146b-5p	CLIP-seq
MIRT1450161	hsa-miR-183	CLIP-seq
MIRT1450162	hsa-miR-208a	CLIP-seq
MIRT1450163	hsa-miR-208b	CLIP-seq
MIRT1450164	hsa-miR-2467-3p	CLIP-seq
MIRT1450165	hsa-miR-27a	CLIP-seq
MIRT1450166	hsa-miR-27b	CLIP-seq
MIRT1450167	hsa-miR-302f	CLIP-seq
MIRT1450168	hsa-miR-3129-3p	CLIP-seq
MIRT1450169	hsa-miR-3148	CLIP-seq
MIRT1450170	hsa-miR-3156-5p	CLIP-seq
MIRT1450171	hsa-miR-3158-5p	CLIP-seq
MIRT1450172	hsa-miR-3161	CLIP-seq
MIRT1450173	hsa-miR-3190	CLIP-seq
MIRT1450174	hsa-miR-3607-3p	CLIP-seq
MIRT1450175	hsa-miR-3662	CLIP-seq
MIRT1450176	hsa-miR-3678-3p	CLIP-seq
MIRT1450177	hsa-miR-3682-5p	CLIP-seq
MIRT1450178	hsa-miR-3686	CLIP-seq
MIRT1450179	hsa-miR-374a	CLIP-seq
MIRT1450180	hsa-miR-374b	CLIP-seq
MIRT1450181	hsa-miR-383	CLIP-seq
MIRT1450182	hsa-miR-409-3p	CLIP-seq
MIRT1450183	hsa-miR-4275	CLIP-seq
MIRT1450184	hsa-miR-4418	CLIP-seq
MIRT1450185	hsa-miR-4424	CLIP-seq
MIRT1450186	hsa-miR-4432	CLIP-seq
MIRT1450187	hsa-miR-4477a	CLIP-seq
MIRT1450188	hsa-miR-4704-5p	CLIP-seq
MIRT1450189	hsa-miR-4735-5p	CLIP-seq
MIRT1450190	hsa-miR-4753-3p	CLIP-seq
MIRT1450191	hsa-miR-4768-5p	CLIP-seq
MIRT1450192	hsa-miR-4775	CLIP-seq
MIRT1450193	hsa-miR-4780	CLIP-seq
MIRT1450194	hsa-miR-499-5p	CLIP-seq
MIRT1450195	hsa-miR-509-3-5p	CLIP-seq
MIRT1450196	hsa-miR-509-5p	CLIP-seq
MIRT1450197	hsa-miR-513a-5p	CLIP-seq
MIRT1450198	hsa-miR-589	CLIP-seq
MIRT1450199	hsa-miR-656	CLIP-seq
MIRT1450200	hsa-miR-889	CLIP-seq
MIRT1450158	hsa-miR-128	CLIP-seq
MIRT1450165	hsa-miR-27a	CLIP-seq
MIRT1450166	hsa-miR-27b	CLIP-seq
MIRT1450172	hsa-miR-3161	CLIP-seq
MIRT2134566	hsa-miR-3606	CLIP-seq
MIRT1450188	hsa-miR-4704-5p	CLIP-seq
MIRT1450197	hsa-miR-513a-5p	CLIP-seq
MIRT1450157	hsa-miR-1236	CLIP-seq
MIRT1450158	hsa-miR-128	CLIP-seq
MIRT2355871	hsa-miR-203	CLIP-seq
MIRT1450165	hsa-miR-27a	CLIP-seq
MIRT1450166	hsa-miR-27b	CLIP-seq
MIRT1450168	hsa-miR-3129-3p	CLIP-seq
MIRT1450172	hsa-miR-3161	CLIP-seq
MIRT2355872	hsa-miR-410	CLIP-seq
MIRT1450187	hsa-miR-4477a	CLIP-seq
MIRT1450190	hsa-miR-4753-3p	CLIP-seq
MIRT1450191	hsa-miR-4768-5p	CLIP-seq
MIRT2355873	hsa-miR-489	CLIP-seq
MIRT2355874	hsa-miR-496	CLIP-seq
MIRT1450197	hsa-miR-513a-5p	CLIP-seq
MIRT1450157	hsa-miR-1236	CLIP-seq
MIRT1450158	hsa-miR-128	CLIP-seq
MIRT1450165	hsa-miR-27a	CLIP-seq
MIRT1450166	hsa-miR-27b	CLIP-seq
MIRT1450168	hsa-miR-3129-3p	CLIP-seq
MIRT1450190	hsa-miR-4753-3p	CLIP-seq
MIRT1450191	hsa-miR-4768-5p	CLIP-seq
MIRT1450197	hsa-miR-513a-5p	CLIP-seq
MIRT2462232	hsa-miR-1253	CLIP-seq
MIRT2462233	hsa-miR-3136-5p	CLIP-seq
MIRT2462234	hsa-miR-4439	CLIP-seq
MIRT2462235	hsa-miR-4513	CLIP-seq
MIRT2462236	hsa-miR-4670-3p	CLIP-seq
MIRT1450188	hsa-miR-4704-5p	CLIP-seq

82 Show/Hide all (82)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	21613532
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	19273613
GO:0000776	Component	Kinetochore	IDA	20133940
GO:0003682	Function	Chromatin binding	IDA	17897941
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003729	Function	MRNA binding	IDA	17897941
GO:0005515	Function	Protein binding	IPI	12802065, 15654337, 17897941, 18794356, 18981471, 19273613, 20133940, 22253824, 24581499, 24970816
GO:0005634	Component	Nucleus	IDA	15654337
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	17098863, 24315095, 24970816
GO:0005635	Component	Nuclear envelope	IEA
GO:0005643	Component	Nuclear pore	IBA
GO:0005643	Component	Nuclear pore	IDA	9828100, 9864356, 11514627, 12802065
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	11952838, 12802065
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IDA	20133940
GO:0006404	Process	RNA import into nucleus	IDA	9864356
GO:0006405	Process	RNA export from nucleus	IMP	11952838
GO:0006406	Process	MRNA export from nucleus	IBA
GO:0006606	Process	Protein import into nucleus	IDA	9864356
GO:0006606	Process	Protein import into nucleus	IMP	11952838
GO:0006606	Process	Protein import into nucleus	IMP	18794356
GO:0006606	Process	Protein import into nucleus	TAS	7798308
GO:0006611	Process	Protein export from nucleus	IMP	11952838
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0006999	Process	Nuclear pore organization	IMP	11952838
GO:0006999	Process	Nuclear pore organization	IMP	15229283
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IMP	20133940
GO:0010793	Process	Regulation of mRNA export from nucleus	IMP	22253824
GO:0010965	Process	Regulation of mitotic sister chromatid separation	IMP	20133940
GO:0015031	Process	Protein transport	IEA
GO:0015631	Function	Tubulin binding	IDA	20133940
GO:0016020	Component	Membrane	IEA
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IDA	22253824
GO:0031072	Function	Heat shock protein binding	IDA	17897941
GO:0031453	Process	Positive regulation of heterochromatin formation	IMP	20407419
GO:0031647	Process	Regulation of protein stability	IMP	21613532
GO:0031965	Component	Nuclear membrane	IDA	9024684, 9828100, 9864356, 11514627, 11839768, 11952838, 12802065, 15229283, 18794356, 20407419, 22253824
GO:0031965	Component	Nuclear membrane	IEA
GO:0031990	Process	MRNA export from nucleus in response to heat stress	IDA	17897941
GO:0032880	Process	Regulation of protein localization	IMP	18981471
GO:0034399	Component	Nuclear periphery	IDA	9024684, 11514627, 11839768, 11952838, 15229283, 22401879
GO:0034399	Component	Nuclear periphery	IEA
GO:0034605	Process	Cellular response to heat	IDA	17897941
GO:0035457	Process	Cellular response to interferon-alpha	ISS
GO:0042306	Process	Regulation of protein import into nucleus	IMP	22253824
GO:0042307	Process	Positive regulation of protein import into nucleus	IMP	18794356
GO:0042405	Component	Nuclear inclusion body	IDA	11514627, 11839768
GO:0042405	Component	Nuclear inclusion body	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	11514627, 12802065
GO:0043495	Function	Protein-membrane adaptor activity	IMP	12802065
GO:0043578	Process	Nuclear matrix organization	IMP	11952838
GO:0044615	Component	Nuclear pore nuclear basket	IDA	9024684, 11839768, 15229283, 18981471
GO:0044615	Component	Nuclear pore nuclear basket	IEA
GO:0045947	Process	Negative regulation of translational initiation	IMP	21613532
GO:0046824	Process	Positive regulation of nucleocytoplasmic transport	IEA
GO:0046825	Process	Regulation of protein export from nucleus	IMP	22253824
GO:0046827	Process	Positive regulation of protein export from nucleus	ISS
GO:0046832	Process	Negative regulation of RNA export from nucleus	IDA	22253824
GO:0046832	Process	Negative regulation of RNA export from nucleus	IMP	21613532
GO:0051019	Function	Mitogen-activated protein kinase binding	IDA	18794356
GO:0051028	Process	MRNA transport	IEA
GO:0051168	Process	Nuclear export	IEA
GO:0051292	Process	Nuclear pore complex assembly	IMP	12802065
GO:0051301	Process	Cell division	IEA
GO:0070840	Function	Dynein complex binding	IDA	20133940
GO:0070849	Process	Response to epidermal growth factor	IDA	18794356
GO:0072686	Component	Mitotic spindle	IDA	20133940
GO:0090267	Process	Positive regulation of mitotic cell cycle spindle assembly checkpoint	IMP	18981471, 19273613
GO:0090316	Process	Positive regulation of intracellular protein transport	IEA
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	19273613
GO:1901673	Process	Regulation of mitotic spindle assembly	IBA
GO:1901673	Process	Regulation of mitotic spindle assembly	IMP	19273613

MIM	HGNC	e!Ensembl
189940	12017	ENSG00000047410

P12270

Protein name

Nucleoprotein TPR (Megator) (NPC-associated intranuclear protein) (Translocated promoter region protein)

Protein function

Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and

PDB

5TO5 , 5TO6 , 5TO7 , 5TVB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07926	TPR_MLP1_2	1038 → 1166	TPR/MLP1/MLP2-like protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Expressed in esophagus, ovary, liver, skin, smooth muscles, cerebrum and fetal cerebellum (at protein level). Highest in testis, lung, thymus, spleen and brain, lower levels in heart, liver and kidney. {ECO:0000269|PubMed:12424524, ECO

Sequence

MAAVLQQVLERTELNKLPKSVQNKLEKFLADQQSEIDGLKGRHEKFKVESEQQYFEIEKR
LSHSQERLVNETRECQSLRLELEKLNNQLKALTEKNKELEIAQDRNIAIQSQFTRTKEEL
EAEKRDLIRTNERLSQELEYLTEDVKRLNEKLKESNTTKGELQLKLDELQASDVSVKYRE
KRLEQEKELLHSQNTWLNTELKTKTDELLALGREKGNEILELKCNLENKKEEVSRLEEQM
NGLKTSNEHLQKHVEDLLTKLKEAKEQQASMEEKFHNELNAHIKLSNLYKSAADDSEAKS
NELTRAVEELHKLLKEAGEANKAIQDHLLEVEQSKDQMEKEMLEKIGRLEKELENANDLL
SATKRKGAILSEEELAAMSPTAAAVAKIVKPGMKLTELYNAYVETQDQLLLEKLENKRIN
KYLDEIVKEVEAKAPILKRQREEYERAQKAVASLSVKLEQAMKEIQRLQEDTDKANKQSS
VLERDNRRMEIQVKDLSQQIRVLLMELEEARGNHVIRDEEVSSADISSSSEVISQHLVSY
RNIEELQQQNQRLLVALRELGETREREEQETTSSKITELQLKLESALTELEQLRKSRQHQ
MQLVDSIVRQRDMYRILLSQTTGVAIPLHASSLDDVSLASTPKRPSTSQTVSTPAPVPVI
ESTEAIEAKAALKQLQEIFENYKKEKAENEKIQNEQLEKLQEQVTDLRSQNTKISTQLDF
ASKRYEMLQDNVEGYRREITSLHERNQKLTATTQKQEQIINTMTQDLRGANEKLAVAEVR
AENLKKEKEMLKLSEVRLSQQRESLLAEQRGQNLLLTNLQTIQGILERSETETKQRLSSQ
IEKLEHEISHLKKKLENEVEQRHTLTRNLDVQLLDTKRQLDTETNLHLNTKELLKNAQKE
IATLKQHLSNMEVQVASQSSQRTGKGQPSNKEDVDDLVSQLRQTEEQVNDLKERLKTSTS
NVEQYQAMVTSLEESLNKEKQVTEEVRKNIEVRLKESAEFQTQLEKKLMEVEKEKQELQD
DKRRAIESMEQQLSELKKTLSSVQNEVQEALQRASTALSNEQQARRDCQEQAKIAVEAQN
KYERELMLHAADVEALQAAKEQVSKMASVRQHLEETTQKAESQLLECKASWEERERMLKD
EVSKCVCRCEDLEKQNRLLHDQIEKLSDKVVASVKEGVQGPLNVSLSEEGKSQEQILEIL
RFIRREKEIAETRFEVAQVESLRYRQRVELLERELQELQDSLNAEREKVQVTAKTMAQHE
ELMKKTETMNVVMETNKMLREEKERLEQDLQQMQAKVRKLELDILPLQEANAELSEKSGM
LQAEKKLLEEDVKRWKARNQHLVSQQKDPDTEEYRKLLSEKEVHTKRIQQLTEEIGRLKA
EIARSNASLTNNQNLIQSLKEDLNKVRTEKETIQKDLDAKIIDIQEKVKTITQVKKIGRR
YKTQYEELKAQQDKVMETSAQSSGDHQEQHVSVQEMQELKETLNQAETKSKSLESQVENL
QKTLSEKETEARNLQEQTVQLQSELSRLRQDLQDRTTQEEQLRQQITEKEEKTRKAIVAA
KSKIAHLAGVKDQLTKENEELKQRNGALDQQKDELDVRITALKSQYEGRISRLERELREH
QERHLEQRDEPQEPSNKVPEQQRQITLKTTPASGERGIASTSDPPTANIKPTPVVSTPSK
VTAAAMAGNKSTPRASIRPMVTPATVTNPTTTPTATVMPTTQVESQEAMQSEGPVEHVPV
FGSTSGSVRSTSPNVQPSISQPILTVQQQTQATAFVQPTQQSHPQIEPANQELSSNIVEV
VQSSPVERPSTSTAVFGTVSATPSSSLPKRTREEEEDSTIEASDQVSDDTVEMPLPKKLK
SVTPVGTEEEVMAEESTDGEVETQVYNQDSQDSIGEGVTQGDYTPMEDSEETSQSLQIDL
GPLQSDQQTTTSSQDGQGKGDDVIVIDSDDEEEDDDENDGEHEDYEEDEEDDDDDEDDTG
MGDEGEDSNEGTGSADGNDGYEADDAEGGDGTDPGTETEESMGGGEGNHRAADSQNSGEG
NTGAAESSFSQEVSREQQPSSASERQAPRAPQSPRRPPHPLPPRLTIHAPPQELGPPVQR
IQMTRRQSVGRGLQLTPGIGGMQQHFFDDEDRTVPSTPTLVVPHRTDGFAEAIHSPQVAG
VPRFRFGPPEDMPQTSSSHSDLGQLASQGGLGMYETPLFLAHEEESGGRSVPTTPLQVAA
PVTVFTESTTSDASEHASQSVPMVTTSTGTLSTTNETATGDDGDEVFVEAESEGISSEAG
LEIDSQQEEEPVQASDESDLPSTSQDPPSSSSVDTSSSQPKPFRRVRLQTTLRQGVRGRQ
FNRQRGVSHAMGGRGGINRGNIN

Sequence length

2363

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Nucleocytoplasmic transport	ISG15 antiviral mechanism
Amyotrophic lateral sclerosis	Transport of the SLBP independent Mature mRNA
Pathways in cancer	Transport of the SLBP Dependant Mature mRNA
Thyroid cancer	Transport of Mature mRNA Derived from an Intronless Transcript
	Transport of Mature mRNA derived from an Intron-Containing Transcript
	Rev-mediated nuclear export of HIV RNA
	Transport of Ribonucleoproteins into the Host Nucleus
	NS1 Mediated Effects on Host Pathways
	Viral Messenger RNA Synthesis
	NEP/NS2 Interacts with the Cellular Export Machinery
	Regulation of Glucokinase by Glucokinase Regulatory Protein
	Vpr-mediated nuclear import of PICs
	snRNP Assembly
	SUMOylation of DNA damage response and repair proteins
	SUMOylation of ubiquitinylation proteins
	Nuclear Pore Complex (NPC) Disassembly
	Regulation of HSF1-mediated heat shock response
	SUMOylation of SUMOylation proteins
	SUMOylation of chromatin organization proteins
	SUMOylation of RNA binding proteins
	SUMOylation of DNA replication proteins
	Transcriptional regulation by small RNAs
	Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
	tRNA processing in the nucleus
	HCMV Early Events
	HCMV Late Events

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (6)
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	34494102	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	Orphanet	1532241, 9172002	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual developmental disorder, autosomal recessive 79	Uncertain significance	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	24082139, 25363768, 28191890, 34494102	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THYROID NEOPLASMS	—	CTD	23811263	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (41)
Asthma	Asthma	BEFREE	30069364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34494102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30069364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	BEFREE	27773428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Ependymoma	LHGDN	18663750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22913813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22913813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36316040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	2300559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22384028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29606577, 34494102	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	29606577		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22425524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34793452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25986567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31279156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	2052572, 22425524, 22913813, 26001971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	25986567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34494102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	22461701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10760755, 9207167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25986567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	14574644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	2052572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40321814	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34168151	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33755158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	ORPHANET_DG	1532241, 9172002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	19883730, 26784937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	30565836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25986567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	32957984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe periodontitis	Periodontitis	BEFREE	30373754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10760755, 2052572, 31279156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	8289471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	23811263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	23811263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	23811263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22887574, 32737449	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
NCOA4	2	["Differentiated thyroid carcinoma","Thyroid neoplasms"]	1	["Thyroid cancer"]	2	["Orphanet (Differentiated thyroid carcinoma)","CTD (Thyroid neoplasms)"]
NUP50	0	[]	27	["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]	0	[]
NUP42	0	[]	27	["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]	0	[]
NUP210	0	[]	27	["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]	0	[]
NUP62	0	[]	27	["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]	0	[]

TPR (translocated promoter region, nuclear basket protein)

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