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	10210
Gene name	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
Gene symbol	TOPORS
Synonyms (NCBI Gene)	LUNP53BP3RP31TP53BPL
Chromosome	9
Chromosome location	9p21.1
Summary	This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139859703	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs372292364	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs527236116	CTCT>-,CT	Pathogenic	Frameshift variant, coding sequence variant
rs869312183	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1246790145	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554671407	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563983151	TCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1587620892	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1587620953	->T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (92)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005324	hsa-miR-21-5p	Luciferase reporter assayqRT-PCR	18829576
MIRT005324	hsa-miR-21-5p	Microarray	18591254
MIRT439400	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439399	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439400	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726249	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726248	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726247	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726246	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439399	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT739216	hsa-miR-197	HITS-CLIP	33718276
MIRT739217	hsa-miR-5096	HITS-CLIP	33718276
MIRT1447392	hsa-miR-142-5p	CLIP-seq
MIRT1447393	hsa-miR-193a-3p	CLIP-seq
MIRT1447394	hsa-miR-193b	CLIP-seq
MIRT1447395	hsa-miR-198	CLIP-seq
MIRT1447396	hsa-miR-21	CLIP-seq
MIRT1447397	hsa-miR-3180-5p	CLIP-seq
MIRT1447398	hsa-miR-340	CLIP-seq
MIRT1447399	hsa-miR-34a	CLIP-seq
MIRT1447400	hsa-miR-34c-5p	CLIP-seq
MIRT1447401	hsa-miR-3653	CLIP-seq
MIRT1447402	hsa-miR-3658	CLIP-seq
MIRT1447403	hsa-miR-410	CLIP-seq
MIRT1447404	hsa-miR-4279	CLIP-seq
MIRT1447405	hsa-miR-4320	CLIP-seq
MIRT1447406	hsa-miR-449a	CLIP-seq
MIRT1447407	hsa-miR-449b	CLIP-seq
MIRT1447408	hsa-miR-455-3p	CLIP-seq
MIRT1447409	hsa-miR-4643	CLIP-seq
MIRT1447410	hsa-miR-466	CLIP-seq
MIRT1447411	hsa-miR-4789-3p	CLIP-seq
MIRT1447412	hsa-miR-520a-5p	CLIP-seq
MIRT1447413	hsa-miR-525-5p	CLIP-seq
MIRT1447414	hsa-miR-548u	CLIP-seq
MIRT1447415	hsa-miR-577	CLIP-seq
MIRT1447416	hsa-miR-590-5p	CLIP-seq
MIRT1447417	hsa-miR-892b	CLIP-seq
MIRT1447418	hsa-miR-106a	CLIP-seq
MIRT1447419	hsa-miR-106b	CLIP-seq
MIRT1447420	hsa-miR-17	CLIP-seq
MIRT1447421	hsa-miR-2052	CLIP-seq
MIRT1447422	hsa-miR-20a	CLIP-seq
MIRT1447423	hsa-miR-20b	CLIP-seq
MIRT1447424	hsa-miR-412	CLIP-seq
MIRT1447425	hsa-miR-4274	CLIP-seq
MIRT1447426	hsa-miR-448	CLIP-seq
MIRT1447427	hsa-miR-4519	CLIP-seq
MIRT1447428	hsa-miR-4659a-3p	CLIP-seq
MIRT1447429	hsa-miR-4659b-3p	CLIP-seq
MIRT1447430	hsa-miR-498	CLIP-seq
MIRT1447431	hsa-miR-513a-3p	CLIP-seq
MIRT1447432	hsa-miR-519a	CLIP-seq
MIRT1447433	hsa-miR-519b-3p	CLIP-seq
MIRT1447434	hsa-miR-519c-3p	CLIP-seq
MIRT1447435	hsa-miR-519d	CLIP-seq
MIRT1447436	hsa-miR-522	CLIP-seq
MIRT1447437	hsa-miR-548n	CLIP-seq
MIRT1447438	hsa-miR-548t	CLIP-seq
MIRT1447439	hsa-miR-93	CLIP-seq
MIRT1447440	hsa-miR-938	CLIP-seq
MIRT1447396	hsa-miR-21	CLIP-seq
MIRT1447397	hsa-miR-3180-5p	CLIP-seq
MIRT1447412	hsa-miR-520a-5p	CLIP-seq
MIRT1447413	hsa-miR-525-5p	CLIP-seq
MIRT1447416	hsa-miR-590-5p	CLIP-seq
MIRT1447418	hsa-miR-106a	CLIP-seq
MIRT1447419	hsa-miR-106b	CLIP-seq
MIRT2354907	hsa-miR-1304	CLIP-seq
MIRT1447420	hsa-miR-17	CLIP-seq
MIRT1447422	hsa-miR-20a	CLIP-seq
MIRT1447423	hsa-miR-20b	CLIP-seq
MIRT1447424	hsa-miR-412	CLIP-seq
MIRT2354908	hsa-miR-425	CLIP-seq
MIRT1447426	hsa-miR-448	CLIP-seq
MIRT2354909	hsa-miR-4670-3p	CLIP-seq
MIRT1447432	hsa-miR-519a	CLIP-seq
MIRT1447433	hsa-miR-519b-3p	CLIP-seq
MIRT1447434	hsa-miR-519c-3p	CLIP-seq
MIRT1447435	hsa-miR-519d	CLIP-seq
MIRT1447437	hsa-miR-548n	CLIP-seq
MIRT1447438	hsa-miR-548t	CLIP-seq
MIRT1447439	hsa-miR-93	CLIP-seq
MIRT2648654	hsa-miR-298	CLIP-seq
MIRT2648655	hsa-miR-452	CLIP-seq
MIRT2648656	hsa-miR-4676-3p	CLIP-seq
MIRT2648657	hsa-miR-4693-5p	CLIP-seq
MIRT1447430	hsa-miR-498	CLIP-seq
MIRT1447415	hsa-miR-577	CLIP-seq
MIRT2648655	hsa-miR-452	CLIP-seq
MIRT2648656	hsa-miR-4676-3p	CLIP-seq
MIRT2648657	hsa-miR-4693-5p	CLIP-seq

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IDA	15247280
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	15247280
GO:0000922	Component	Spindle pole	IDA	21159800
GO:0000930	Component	Gamma-tubulin complex	IDA	21159800
GO:0003677	Function	DNA binding	IDA	11278651
GO:0003823	Function	Antigen binding	IPI	10415337
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	18077445
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	19473992
GO:0005515	Function	Protein binding	IPI	11842245, 14516784, 17803295, 18077445, 19473992, 20188669
GO:0005634	Component	Nucleus	IDA	18077445
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005814	Component	Centriole	IDA	21159800, 26872363
GO:0006351	Process	DNA-templated transcription	NAS	10352183
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	19473992
GO:0006513	Process	Protein monoubiquitination	IBA
GO:0006513	Process	Protein monoubiquitination	IDA	15247280
GO:0006974	Process	DNA damage response	IDA	15735665
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IDA	20188669
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0010842	Process	Retina layer formation	ISS	21159800
GO:0016605	Component	PML body	IDA	21159800
GO:0016605	Component	PML body	IDA	20188669
GO:0016605	Component	PML body	IEA
GO:0016607	Component	Nuclear speck	IBA
GO:0016607	Component	Nuclear speck	IDA	14516784
GO:0016740	Function	Transferase activity	IEA
GO:0016925	Process	Protein sumoylation	IBA
GO:0016925	Process	Protein sumoylation	IDA	17803295
GO:0016925	Process	Protein sumoylation	IMP	20188669
GO:0016925	Process	Protein sumoylation	TAS
GO:0019789	Function	SUMO transferase activity	EXP	17803295
GO:0019789	Function	SUMO transferase activity	IDA	17803295
GO:0019789	Function	SUMO transferase activity	IMP	19473992
GO:0030496	Component	Midbody	TAS	21159800
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0032391	Component	Photoreceptor connecting cilium	IDA	21159800
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0034504	Process	Protein localization to nucleus	IMP	20188669
GO:0035845	Process	Photoreceptor cell outer segment organization	ISS	21159800
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	21159800
GO:0036064	Component	Ciliary basal body	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS	21159800
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	18077445
GO:0044547	Function	DNA topoisomerase binding	IPI	10352183
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051457	Process	Maintenance of protein location in nucleus	IDA	14516784
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	15247280
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	15247280

MIM	HGNC	e!Ensembl
609507	21653	ENSG00000197579

Q9NS56

Protein name

E3 ubiquitin-protein ligase Topors (EC 2.3.2.27) (RING-type E3 ubiquitin transferase Topors) (SUMO1-protein E3 ligase Topors) (Topoisomerase I-binding RING finger protein) (Topoisomerase I-binding arginine/serine-rich protein) (Tumor suppressor p53-bindin

Protein function

Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May reg

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13920	zf-C3HC4_3	99 → 148		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at highest levels in testis and at lower levels in adrenal gland, bone marrow, brain, colon, heart, kidney, liver, muscle, ovary, pancreas, placenta, prostate, skeletal muscle, skin, small intestine, spleen, stomach, testis,

Sequence

MGSQPPLGSPLSREEGEAPPPAPASEGRRRSRRVRLRGSCRHRPSFLGCRELAASAPARP
APASSEIMASAAKEFKMDNFSPKAGTSKLQQTVPADASPDSKCPICLDRFDNVSYLDRCL
HKFCFRCVQEWSKNKAECPLCKQPFDSIFHSVRAEDDFKEYVLRPSYNGSFVTPDRRFRY
RTTLTRERNASVYSPSGPVNRRTTTPPDSGVLFEGLGISTRPRDVEIPQFMRQIAVRRPT
TADERSLRKIQEQDIINFRRTLYRAGARVRNIEDGGRYRDISAEFFRRNPACLHRLVPWL
KRELTVLFGAHGSLVNIVQHIIMSNVTRYDLESQAFVSDLRPFLLNRTEHFIHEFISFAR
SPFNMAAFDQHANYDCPAPSYEEGSHSDSSVITISPDEAETQELDINVATVSQAPWDDET
PGPSYSSSEQVHVTMSSLLNTSDSSDEELVTGGATSQIQGVQTNDDLNNDSDDSSDNCVI
VGFVKPLAERTPELVELSSDSEDLGSYEKMETVKTQEQEQSYSSGDSDVSRCSSPHSVLG
KDEQINKGHCDSSTRIKSKKEEKRSTSLSSPRNLNSSVRGDRVYSPYNHRHRKRGRSRSS
DSRSQSRSGHDQKNHRKHHGKKRMKSKRSRSRESSRPRGRRDKKRSRTRDSSWSRRSQTL
SLSSESTSRSRSRSSDHGKRRSRSRNRDRYYLRNNYGSRYKWEYTYYSRNKDRDGYESSY
RRRTLSRAHYSRQSSSPEFRVQSFSERTNARKKNNHSERKYYYYERHRSRSLSSNRSRTA
STGTDRVRNEKPGGKRKYKTRHLEGTNEVAQPSREFASKAKDSHYQKSSSKLDGNYKNES
DTFSDSRSSDRETKHKRRKRKTRSLSVEIVYEGKATDTTKHHKKKKKKHKKKHKKHHGDN
ASRSPVVITIDSDSDKDSEVKEDTECDNSGPQDPLQNEFLAPSLEPFETKDVVTIEAEFG
VLDKECDIATLSNNLNNANKTVDNIPPLAASVEQTLDVREESTFVSDLENQPSNIVSLQT
EPSRQLPSPRTSLMSVCLGRDCDMS

Sequence length

1045

Interactions

View interactions

	Reactome
			SUMOylation of transcription cofactors SUMOylation of SUMOylation proteins SUMOylation of immune response proteins

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinal dystrophy	Likely pathogenic; Pathogenic	rs527236116, rs869312183, rs1563983151, rs1587620892, rs927241903, rs1821068883, rs1821069769	RCV001073465 RCV000210308 RCV001074126 RCV001075070 RCV003890162 RCV003890223 RCV001073376 RCV004814060 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs527236116, rs1554671407, rs1246790145, rs1587620892	RCV000132654 RCV000505011 RCV000504822 RCV000988171 RCV001003229	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 31	Likely pathogenic; Pathogenic	rs527236116, rs1587620953, rs2489446452, rs869312183, rs1563983151	RCV001376212 RCV000001723 RCV003164468 RCV005235122 RCV000001724 RCV000678633 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TOPORS-related disorder	Pathogenic	rs1587620953	RCV003415623	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
Abnormal retinal pigmentation	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blurred vision	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOROIDEREMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MACULAR DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OROFACIODIGITAL SYNDROME TYPE 6	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pigmentary retinopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrioventricular Block	Atrioventricular block	BEFREE	29644942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15364129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	12970791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	34132027, 37227088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29194591, 34689394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21649900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	17924349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	11278651	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15364129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18077445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29644942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30463513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15364129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Orofaciodigital Syndromes	Orofaciodigital syndrome	Pubtator	34132027, 37227088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	CTD_human_DG	14767549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	LHGDN	17976381		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	17976381	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	17924349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	34132027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18077445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	18077445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18077445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	26872967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	17924349, 18509552		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	17924349, 18509552, 30718709		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	17924349, 18509552, 23559859, 23950152, 26720483, 28076437, 34132027, 35579903, 35814500	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28453362		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa 31	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 31	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 31	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	11278651	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TOPORS (TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase)