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	9129
Gene name	Pre-mRNA processing factor 3
Gene symbol	PRPF3
Synonyms (NCBI Gene)	HPRP3HPRP3PPRP3Prp3pRP18SNRNP90
Chromosome	1
Chromosome location	1q21.2
Summary	The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434241	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121434242	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121434243	C>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs199721048	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs1572263399	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1572263404	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant

148

Show/Hide all (148)

miRTarBase ID	miRNA	Experiments
MIRT1265351	hsa-miR-1271	CLIP-seq
MIRT1265352	hsa-miR-1321	CLIP-seq
MIRT1265353	hsa-miR-199a-5p	CLIP-seq
MIRT1265354	hsa-miR-199b-5p	CLIP-seq
MIRT1265355	hsa-miR-204	CLIP-seq
MIRT1265356	hsa-miR-211	CLIP-seq
MIRT1265357	hsa-miR-2355-3p	CLIP-seq
MIRT1265358	hsa-miR-3150b-3p	CLIP-seq
MIRT1265359	hsa-miR-3169	CLIP-seq
MIRT1265360	hsa-miR-345	CLIP-seq
MIRT1265361	hsa-miR-346	CLIP-seq
MIRT1265362	hsa-miR-3591-3p	CLIP-seq
MIRT1265363	hsa-miR-3664-3p	CLIP-seq
MIRT1265364	hsa-miR-377	CLIP-seq
MIRT1265365	hsa-miR-3929	CLIP-seq
MIRT1265366	hsa-miR-4251	CLIP-seq
MIRT1265367	hsa-miR-4277	CLIP-seq
MIRT1265368	hsa-miR-4287	CLIP-seq
MIRT1265369	hsa-miR-4288	CLIP-seq
MIRT1265370	hsa-miR-4303	CLIP-seq
MIRT1265371	hsa-miR-4329	CLIP-seq
MIRT1265372	hsa-miR-4419b	CLIP-seq
MIRT1265373	hsa-miR-4433	CLIP-seq
MIRT1265374	hsa-miR-4459	CLIP-seq
MIRT1265375	hsa-miR-4469	CLIP-seq
MIRT1265376	hsa-miR-4478	CLIP-seq
MIRT1265377	hsa-miR-451b	CLIP-seq
MIRT1265378	hsa-miR-4646-3p	CLIP-seq
MIRT1265379	hsa-miR-4685-3p	CLIP-seq
MIRT1265380	hsa-miR-4709-3p	CLIP-seq
MIRT1265381	hsa-miR-4713-5p	CLIP-seq
MIRT1265382	hsa-miR-4733-3p	CLIP-seq
MIRT1265383	hsa-miR-4739	CLIP-seq
MIRT1265384	hsa-miR-4740-5p	CLIP-seq
MIRT1265385	hsa-miR-4756-5p	CLIP-seq
MIRT1265386	hsa-miR-4768-3p	CLIP-seq
MIRT1265387	hsa-miR-4779	CLIP-seq
MIRT1265388	hsa-miR-4784	CLIP-seq
MIRT1265389	hsa-miR-510	CLIP-seq
MIRT1265390	hsa-miR-548an	CLIP-seq
MIRT1265391	hsa-miR-632	CLIP-seq
MIRT1265392	hsa-miR-765	CLIP-seq
MIRT1265393	hsa-miR-939	CLIP-seq
MIRT1265394	hsa-miR-96	CLIP-seq
MIRT1265352	hsa-miR-1321	CLIP-seq
MIRT2078022	hsa-miR-3121-3p	CLIP-seq
MIRT2078023	hsa-miR-3153	CLIP-seq
MIRT1265359	hsa-miR-3169	CLIP-seq
MIRT2078024	hsa-miR-3689a-3p	CLIP-seq
MIRT2078025	hsa-miR-3689c	CLIP-seq
MIRT2078026	hsa-miR-4425	CLIP-seq
MIRT2078027	hsa-miR-4668-5p	CLIP-seq
MIRT1265380	hsa-miR-4709-3p	CLIP-seq
MIRT2078028	hsa-miR-4728-5p	CLIP-seq
MIRT1265383	hsa-miR-4739	CLIP-seq
MIRT1265384	hsa-miR-4740-5p	CLIP-seq
MIRT1265385	hsa-miR-4756-5p	CLIP-seq
MIRT1265390	hsa-miR-548an	CLIP-seq
MIRT1265363	hsa-miR-3664-3p	CLIP-seq
MIRT2304529	hsa-miR-3936	CLIP-seq
MIRT1265373	hsa-miR-4433	CLIP-seq
MIRT1265374	hsa-miR-4459	CLIP-seq
MIRT1265377	hsa-miR-451b	CLIP-seq
MIRT1265386	hsa-miR-4768-3p	CLIP-seq
MIRT1265387	hsa-miR-4779	CLIP-seq
MIRT2304530	hsa-miR-501-3p	CLIP-seq
MIRT2304531	hsa-miR-502-3p	CLIP-seq
MIRT1265389	hsa-miR-510	CLIP-seq
MIRT1265393	hsa-miR-939	CLIP-seq
MIRT1265351	hsa-miR-1271	CLIP-seq
MIRT1265352	hsa-miR-1321	CLIP-seq
MIRT1265353	hsa-miR-199a-5p	CLIP-seq
MIRT1265354	hsa-miR-199b-5p	CLIP-seq
MIRT1265355	hsa-miR-204	CLIP-seq
MIRT1265356	hsa-miR-211	CLIP-seq
MIRT1265357	hsa-miR-2355-3p	CLIP-seq
MIRT2078022	hsa-miR-3121-3p	CLIP-seq
MIRT2078023	hsa-miR-3153	CLIP-seq
MIRT1265359	hsa-miR-3169	CLIP-seq
MIRT1265361	hsa-miR-346	CLIP-seq
MIRT1265363	hsa-miR-3664-3p	CLIP-seq
MIRT2078024	hsa-miR-3689a-3p	CLIP-seq
MIRT2078025	hsa-miR-3689c	CLIP-seq
MIRT1265364	hsa-miR-377	CLIP-seq
MIRT1265366	hsa-miR-4251	CLIP-seq
MIRT1265367	hsa-miR-4277	CLIP-seq
MIRT1265368	hsa-miR-4287	CLIP-seq
MIRT1265369	hsa-miR-4288	CLIP-seq
MIRT1265370	hsa-miR-4303	CLIP-seq
MIRT1265371	hsa-miR-4329	CLIP-seq
MIRT2078026	hsa-miR-4425	CLIP-seq
MIRT1265373	hsa-miR-4433	CLIP-seq
MIRT1265374	hsa-miR-4459	CLIP-seq
MIRT1265375	hsa-miR-4469	CLIP-seq
MIRT1265377	hsa-miR-451b	CLIP-seq
MIRT1265378	hsa-miR-4646-3p	CLIP-seq
MIRT2078027	hsa-miR-4668-5p	CLIP-seq
MIRT1265379	hsa-miR-4685-3p	CLIP-seq
MIRT1265380	hsa-miR-4709-3p	CLIP-seq
MIRT1265381	hsa-miR-4713-5p	CLIP-seq
MIRT2078028	hsa-miR-4728-5p	CLIP-seq
MIRT1265383	hsa-miR-4739	CLIP-seq
MIRT1265384	hsa-miR-4740-5p	CLIP-seq
MIRT1265385	hsa-miR-4756-5p	CLIP-seq
MIRT1265386	hsa-miR-4768-3p	CLIP-seq
MIRT1265387	hsa-miR-4779	CLIP-seq
MIRT1265389	hsa-miR-510	CLIP-seq
MIRT1265390	hsa-miR-548an	CLIP-seq
MIRT1265391	hsa-miR-632	CLIP-seq
MIRT1265393	hsa-miR-939	CLIP-seq
MIRT1265394	hsa-miR-96	CLIP-seq
MIRT1265351	hsa-miR-1271	CLIP-seq
MIRT1265353	hsa-miR-199a-5p	CLIP-seq
MIRT1265354	hsa-miR-199b-5p	CLIP-seq
MIRT1265355	hsa-miR-204	CLIP-seq
MIRT1265356	hsa-miR-211	CLIP-seq
MIRT1265357	hsa-miR-2355-3p	CLIP-seq
MIRT2078022	hsa-miR-3121-3p	CLIP-seq
MIRT2078023	hsa-miR-3153	CLIP-seq
MIRT1265359	hsa-miR-3169	CLIP-seq
MIRT1265361	hsa-miR-346	CLIP-seq
MIRT1265363	hsa-miR-3664-3p	CLIP-seq
MIRT2078024	hsa-miR-3689a-3p	CLIP-seq
MIRT2078025	hsa-miR-3689c	CLIP-seq
MIRT1265364	hsa-miR-377	CLIP-seq
MIRT1265366	hsa-miR-4251	CLIP-seq
MIRT1265367	hsa-miR-4277	CLIP-seq
MIRT1265368	hsa-miR-4287	CLIP-seq
MIRT1265369	hsa-miR-4288	CLIP-seq
MIRT1265370	hsa-miR-4303	CLIP-seq
MIRT1265371	hsa-miR-4329	CLIP-seq
MIRT2078026	hsa-miR-4425	CLIP-seq
MIRT1265373	hsa-miR-4433	CLIP-seq
MIRT1265374	hsa-miR-4459	CLIP-seq
MIRT1265375	hsa-miR-4469	CLIP-seq
MIRT1265377	hsa-miR-451b	CLIP-seq
MIRT1265378	hsa-miR-4646-3p	CLIP-seq
MIRT2078027	hsa-miR-4668-5p	CLIP-seq
MIRT1265379	hsa-miR-4685-3p	CLIP-seq
MIRT1265381	hsa-miR-4713-5p	CLIP-seq
MIRT2078028	hsa-miR-4728-5p	CLIP-seq
MIRT1265384	hsa-miR-4740-5p	CLIP-seq
MIRT1265386	hsa-miR-4768-3p	CLIP-seq
MIRT1265387	hsa-miR-4779	CLIP-seq
MIRT1265389	hsa-miR-510	CLIP-seq
MIRT1265391	hsa-miR-632	CLIP-seq
MIRT1265393	hsa-miR-939	CLIP-seq
MIRT1265394	hsa-miR-96	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IDA	20595234
GO:0000375	Process	RNA splicing, via transesterification reactions	TAS	9328476
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28781166
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	9328476
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	15314151, 16189514, 16723661, 17332742, 20595234, 21516116, 22365833, 25383878, 25416956, 25910212, 26030138, 28514442, 32296183, 33961781, 35271311, 39251607
GO:0005634	Component	Nucleus	IDA	20595234, 26912367, 28781166
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9328476
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	NAS	9328476
GO:0005829	Component	Cytosol	IDA
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	TAS	9328476
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	9328476
GO:0015030	Component	Cajal body	IDA	15257298
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0042802	Function	Identical protein binding	IPI	22365833
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	26912367
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IEA
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166

MIM	HGNC	e!Ensembl
607301	17348	ENSG00000117360

O43395

Protein name

U4/U6 small nuclear ribonucleoprotein Prp3 (Pre-mRNA-splicing factor 3) (hPrp3) (U4/U6 snRNP 90 kDa protein)

Protein function

Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). {ECO:0000269|PubMed:26912367, ECO:0000269|PubMed

PDB

1X4Q , 3JCR , 5O9Z , 6AH0 , 6AHD , 6QW6 , 6QX9 , 7N2N , 7N2R , 7N2S , 8H6E , 8H6J , 8H6K , 8H6L , 8Q7N , 8QO9 , 8QOZ , 8QP8 , 8QP9 , 8QPA , 8QPB , 8QPE , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RM5 , 8Y6O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01480	PWI	9 → 78	PWI domain	Family
PF08572	PRP3	308 → 521	pre-mRNA processing factor 3 (PRP3)	Domain
PF06544	DUF1115	544 → 673	Protein of unknown function (DUF1115)	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in retina, liver, kidney and blood. Detected at lower levels in heart and brain. {ECO:0000269|PubMed:11773002}.

Sequence

MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTL
RFVDKLFEAVEEGRSSRHSKSSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVE
EEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPER
LPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGI
APPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEK
PSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAAR
KTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEH
PAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLMPPPEPKVRISN
LMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQG
VHISVYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLH
RIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEGTAKDRSFGEMKFKQCPTENMAREH
FKKHGAEHYWDLALSESVLESTD

Sequence length

683

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinal dystrophy	Pathogenic; Likely pathogenic	rs121434241, rs121434242, rs1657981991, rs1658082808	RCV001074785 RCV004814816 RCV001075175 RCV001074516	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic	rs121434241, rs1658062720	RCV001003129 RCV001199729	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 18	Pathogenic; Likely pathogenic	rs121434241, rs121434242, rs121434243, rs1572263404, rs1658063448	RCV000003516 RCV000003517 RCV000003518 RCV001002720 RCV001261958	★★★★★ ★★★★★ 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.
Acute myeloid leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRPF3-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrophy	Atrophy	Pubtator	20309403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	7774926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31926109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31926109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32483193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ 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
Degenerative polyarthritis	Arthritis	BEFREE	31268737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	33154504	Associate	★★★★★ ★☆☆☆☆ 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
Eye Diseases	Eye disease	Pubtator	15944448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ 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
Malignant neoplasm of breast	Breast Cancer	BEFREE	7774926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	20309403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31292463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ 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			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35260078	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	17517693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	39795970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11773002, 17932117, 20309403, 27886254, 31445970		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	11773002, 17932117		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	15944448, 16799052, 17517693, 17932117, 20309403, 23049240, 23559859, 23950152, 27886254, 35138024, 35814500	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa 13	Retinitis Pigmentosa	BEFREE	18334927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa 18	Retinitis Pigmentosa	BEFREE	11773002, 17932117, 18334927		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 18	Retinitis Pigmentosa	UNIPROT_DG	11773002, 12714658, 17932117		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 18	Retinitis pigmentosa	Pubtator	17932117	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 18	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 18	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 18	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
Stomach Neoplasms	Stomach neoplasms	Pubtator	26840027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRPF3 (pre-mRNA processing factor 3)