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	26121
Gene name	Pre-mRNA processing factor 31
Gene symbol	PRPF31
Synonyms (NCBI Gene)	NY-BR-99PRP31RP11SNRNP61
Chromosome	19
Chromosome location	19q13.42
Summary	This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]

Show/Hide all (53)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119475042	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs119475043	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs144738703	C>A,G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs527236094	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs527236095	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587776589	GGAAGCAGGCC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs587776590	A>G	Pathogenic	Intron variant
rs587776591	C>G	Pathogenic	Intron variant
rs727504107	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs764232082	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs794727001	G>A	Pathogenic	Splice donor variant
rs868538598	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs869312187	C>A,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs878853331	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878853334	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs878853335	G>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886041773	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057517982	G>T	Pathogenic	Splice donor variant
rs1057520752	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1064797250	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1184467860	G>C,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs1389305246	C>G,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1439576531	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1555791188	A>T	Likely-pathogenic	Non coding transcript variant, missense variant, initiator codon variant
rs1555792415	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555792879	GC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555793170	GGGCCCAGCG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555793207	->GTGC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555793828	G>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555794201	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555794205	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555794302	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555794509	AGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCT>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, splice acceptor variant
rs1568600184	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1600324262	G>A	Likely-pathogenic	Initiator codon variant, non coding transcript variant, missense variant
rs1600324442	CAGC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600334904	A>G	Likely-pathogenic	Splice acceptor variant
rs1600335148	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600335289	G>A	Pathogenic	Splice donor variant
rs1600337143	ATAAGTTCATCC>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs1600337158	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600340117	A>G	Likely-pathogenic	Splice acceptor variant
rs1600341902	TAT>-	Likely-pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs1600341931	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600342032	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600342050	G>A	Pathogenic	Splice donor variant
rs1600344451	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600350656	G>A	Pathogenic	Splice acceptor variant, non coding transcript variant
rs1600355373	A>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600355502	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600356790	GATCCGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600360338	->G	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600360654	G>-	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant

Show/Hide all (7)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041831	hsa-miR-484	CLASH	23622248
MIRT041299	hsa-miR-193b-3p	CLASH	23622248
MIRT2432283	hsa-miR-3657	CLIP-seq
MIRT2432284	hsa-miR-4276	CLIP-seq
MIRT2432285	hsa-miR-4535	CLIP-seq
MIRT2432286	hsa-miR-4669	CLIP-seq
MIRT2432287	hsa-miR-492	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IDA	11867543
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IDA	20118938
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IEA
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IMP	15257298
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	15257298
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	11867543
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	30975767
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16723661, 21385873, 22365833, 23793891, 25416956, 25910212, 27107012, 31515488, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	26912367, 28781166
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	30975767
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767
GO:0005684	Component	U2-type spliceosomal complex	IC	17412961
GO:0005687	Component	U4 snRNP	IBA
GO:0005687	Component	U4 snRNP	IDA	17412961
GO:0005690	Component	U4atac snRNP	IDA	21784869
GO:0005690	Component	U4atac snRNP	TAS	17412961
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IDA	11867543
GO:0015030	Component	Cajal body	IEA
GO:0016607	Component	Nuclear speck	IDA	11867543
GO:0016607	Component	Nuclear speck	IEA
GO:0030621	Function	U4 snRNA binding	IDA	16857676
GO:0030622	Function	U4atac snRNA binding	IDA	16857676, 21784869
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	20118938
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	11867543
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	11867543, 23793891, 26912367
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IEA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0048254	Process	SnoRNA localization	IMP	17636026
GO:0070990	Function	SnRNP binding	IPI	17412961
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166
GO:0071011	Component	Precatalytic spliceosome	IBA
GO:0071166	Process	Ribonucleoprotein complex localization	IMP	17636026
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0097526	Component	Spliceosomal tri-snRNP complex	IBA
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
606419	15446	ENSG00000105618

Q8WWY3

Protein name

U4/U6 small nuclear ribonucleoprotein Prp31 (Pre-mRNA-processing factor 31) (Serologically defined breast cancer antigen NY-BR-99) (U4/U6 snRNP 61 kDa protein) (Protein 61K) (hPrp31)

Protein function

Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:20118938, PubMed:28781166). Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:11867543). {ECO

PDB

2OZB , 3JCR , 3SIU , 3SIV , 5O9Z , 6AH0 , 6AHD , 6QW6 , 6QX9 , 8H6E , 8H6J , 8H6K , 8H6L , 8Q7N , 8QO9 , 8QOZ , 8QP8 , 8QP9 , 8QPA , 8QPB , 8QPE , 8QPK , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RM5 , 8Y6O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01798	Nop	99 → 330	snoRNA binding domain, fibrillarin	Family
PF09785	Prp31_C	337 → 465	Prp31 C terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11545739}.

Sequence

MSLADELLADLEEAAEEEEGGSYGEEEEEPAIEDVQEETQLDLSGDSVKTIAKLWDSKMF
AEIMMKIEEYISKQAKASEVMGPVEAAPEYRVIVDANNLTVEIENELNIIHKFIRDKYSK
RFPELESLVPNALDYIRTVKELGNSLDKCKNNENLQQILTNATIMVVSVTASTTQGQQLS
EEELERLEEACDMALELNASKHRIYEYVESRMSFIAPNLSIIIGASTAAKIMGVAGGLTN
LSKMPACNIMLLGAQRKTLSGFSSTSVLPHTGYIYHSDIVQSLPPDLRRKAARLVAAKCT
LAARVDSFHESTEGKVGYELKDEIERKFDKWQEPPPVKQVKPLPAPLDGQRKKRGGRRYR
KMKERLGLTEIRKQANRMSFGEIEEDAYQEDLGFSLGHLGKSGSGRVRQTQVNEATKARI
SKTLQRTLQKQSVVYGGKSTIRDRSSGTASSVAFTPLQGLEIVNPQAAEKKVAEANQKYF
SSMAEFLKVKGEKSGLMST

Sequence length

499

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
PRPF31-related disorder	Pathogenic; Likely pathogenic	rs1555792415, rs2516206637, rs868538598, rs2073926924	RCV004731213 RCV003916550 RCV004757175 RCV003906174	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs2146418999, rs2146445865, rs1555792415, rs2146413215, rs2146420160, rs779270349, rs794727001, rs587776590, rs2516077994, rs869312187, rs878853331, rs878853335, rs878853334, rs868538598, rs2516206256 View all (36 more)	RCV004815500 RCV004815566 RCV004816819 RCV003888348 RCV004816825 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs2146420485, rs2146445593, rs527236094, rs144738703, rs527236095, rs868538598, rs886041773, rs1555791188, rs1555793207, rs1555794302, rs1555794509, rs1555792879, rs1555794205, rs1600341902, rs1600341931 View all (32 more)	RCV001724807 RCV001724809 RCV000132673 RCV000132674 RCV000132675 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 11	Likely pathogenic; Pathogenic	rs2146392668, rs2146393019, rs2146394271, rs2146418999, rs2146420554, rs2146421305, rs2146450161, rs2146450721, rs2146393245, rs2146453060, rs2146380786, rs2146409568, rs2146420160, rs2146436400, rs2146437002 View all (27 more)	RCV001376476 RCV001376223 RCV001376355 RCV001376265 RCV001376222 View all (39 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

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.
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (124)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25085781, 30226269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	24244300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	17668379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29490353		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28928863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	29310814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30478836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30149689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	23144630, 26781568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	16762827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21962529, 25929808, 28398609, 29687854, 31608179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30149689, 31302496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	28534968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29193083, 29863245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26631459, 28280357, 29478268, 30790638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30790638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30790638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27980230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29073791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24608966, 24908062, 28427191, 28442398, 28612367, 29073791, 29167551, 29749517, 30518759, 30542703, 30979372, 31718693, 31789575		★★★★★ ★☆☆☆☆ 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
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29070041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	29130980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29414810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29650774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26556537, 28543639, 30039593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29650774, 31648709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29650774		★★★★★ ★☆☆☆☆ 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
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	14580778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28280357, 29478268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	31368349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19430298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31202814		★★★★★ ★☆☆☆☆ 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
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	26556537, 28543639, 30039593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	25243407, 28534968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29220122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29130980, 30015383, 30018707, 30335897, 30378276, 30718359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	28749191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	24244300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25929808, 28398609, 29687854, 31608179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	28534968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30335897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29193083, 29863245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26631459, 30790638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26447755, 30802827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25422238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28128738, 29693709, 29991048, 30320481, 31766099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30149689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20111712, 24908062, 28612367, 29749482, 30335897, 30362374, 30518759, 31397491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30790638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29073791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	16364769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19430298, 28427191, 28534968, 28572735, 28765887, 28817151, 29073791, 29509240, 29863245, 29991048, 30349062, 30718359, 30732148, 31102261, 31202814, 31512299 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29956723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	15066327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30720100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26393913, 28765887, 29845246		★★★★★ ★☆☆☆☆ 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
Oligospermia	Oligospermia	BEFREE	29684482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30732148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31146489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26631459, 30790638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20111712, 26152742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26447755, 30802827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31917448, 34238114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26690675, 28817151, 30474931, 31044550, 31102261, 31792675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31507635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25422238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29070041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	18317597, 27212874	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	22723017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	32423767, 36524988, 36811936, 38184646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	26197217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	26872967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis	Retinitis	BEFREE	12923864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	11867543, 12444105, 12923864, 15162096, 15659613, 15924690, 17325180, 17895420, 18552984, 19096719		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	11867543, 12923864, 15162096, 16636657, 16799052, 16917484, 17003455, 18177735, 18317597, 18431455, 18552984, 19050727, 19584904, 19618371, 20238024 View all (36 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	12444105, 12714658, 15162096, 16139010, 16636657, 16708387, 16828200, 17412961, 18317597, 18431455, 18640990, 18704120, 19293337, 19373678, 19506198 View all (24 more)		★★★★★ ★★★★★ 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 1	Retinitis Pigmentosa	BEFREE	18552984		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa 11	Retinitis Pigmentosa	UNIPROT_DG	11545739, 12444105, 12923864, 17412961, 8808602		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 11	Retinitis Pigmentosa	BEFREE	12444105, 16708387, 17295140, 18334927, 18431455		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 11	Retinitis pigmentosa	Pubtator	30611018, 34680937, 36833363, 40220513	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 11	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 11	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 11	Retinitis Pigmentosa	CTD_human_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	18334927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa 7	Retinitis Pigmentosa	BEFREE	8571961		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 9	Retinitis Pigmentosa	BEFREE	18334927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	Pubtator	33851411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	31390976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	33046718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28720099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	14699618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21668474, 29763905, 31397491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31815689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29568882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	31512299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28128738, 29693709, 29991048, 30320481, 31766099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28749191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	31442209		★★★★★ ★☆☆☆☆ Found in Text Mining only
THYROID CARCINOMA, SPORADIC MEDULLARY	Thyroid Carcinoma	BEFREE	26690675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	31420334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	24147006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23288994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	23899771		★★★★★ ★☆☆☆☆ Found in Text Mining only

PRPF31 (pre-mRNA processing factor 31)