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	24148
Gene name	Pre-mRNA processing factor 6
Gene symbol	PRPF6
Synonyms (NCBI Gene)	ANT-1ANT1C20orf14Prp6RP60SNRNP102TOMU5-102KhPrp6
Chromosome	20
Chromosome location	20q13.33
Summary	The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between t

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41278234	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387907100	C>A,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs527236096	G>C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (84)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046285	hsa-miR-23b-3p	CLASH	23622248
MIRT045630	hsa-miR-149-5p	CLASH	23622248
MIRT036513	hsa-miR-1226-3p	CLASH	23622248
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT671227	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT671227	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT2078163	hsa-miR-1197	CLIP-seq
MIRT2078164	hsa-miR-1233	CLIP-seq
MIRT2078165	hsa-miR-1252	CLIP-seq
MIRT2078166	hsa-miR-129-3p	CLIP-seq
MIRT2078167	hsa-miR-3173-3p	CLIP-seq
MIRT2078168	hsa-miR-3692	CLIP-seq
MIRT2078169	hsa-miR-4462	CLIP-seq
MIRT2078170	hsa-miR-548ac	CLIP-seq
MIRT2078171	hsa-miR-548ae	CLIP-seq
MIRT2078172	hsa-miR-548aj	CLIP-seq
MIRT2078173	hsa-miR-548am	CLIP-seq
MIRT2078174	hsa-miR-548d-3p	CLIP-seq
MIRT2078175	hsa-miR-548x	CLIP-seq
MIRT2078176	hsa-miR-548z	CLIP-seq
MIRT2078163	hsa-miR-1197	CLIP-seq
MIRT2078164	hsa-miR-1233	CLIP-seq
MIRT2078165	hsa-miR-1252	CLIP-seq
MIRT2078166	hsa-miR-129-3p	CLIP-seq
MIRT2304628	hsa-miR-3136-3p	CLIP-seq
MIRT2078167	hsa-miR-3173-3p	CLIP-seq
MIRT2078168	hsa-miR-3692	CLIP-seq
MIRT2078169	hsa-miR-4462	CLIP-seq
MIRT2078170	hsa-miR-548ac	CLIP-seq
MIRT2078171	hsa-miR-548ae	CLIP-seq
MIRT2078172	hsa-miR-548aj	CLIP-seq
MIRT2078173	hsa-miR-548am	CLIP-seq
MIRT2078174	hsa-miR-548d-3p	CLIP-seq
MIRT2078175	hsa-miR-548x	CLIP-seq
MIRT2078176	hsa-miR-548z	CLIP-seq
MIRT2078165	hsa-miR-1252	CLIP-seq
MIRT2078167	hsa-miR-3173-3p	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IBA
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IC	10788320
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IDA	20118938
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IMP	15257298
GO:0000245	Process	Spliceosomal complex assembly	NAS	10788320
GO:0000375	Process	RNA splicing, via transesterification reactions	NAS	10788320
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	10788320, 11991638, 15257298
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	21549338, 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
GO:0003723	Function	RNA binding	IDA	20797886
GO:0005515	Function	Protein binding	IPI	12620389, 15840814, 16723661, 17332742, 22365833, 27173435, 28514442, 33961781, 34316702, 35271311, 35709258, 39251607
GO:0005634	Component	Nucleus	IDA	16414017, 28781166
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	30975767
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767
GO:0005681	Component	Spliceosomal complex	NAS	10788320
GO:0005682	Component	U5 snRNP	IDA	10788320
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006396	Process	RNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006403	Process	RNA localization	IMP	20797886
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	NAS	10788320
GO:0016020	Component	Membrane	HDA	19946888
GO:0016607	Component	Nuclear speck	IDA	21549338
GO:0016607	Component	Nuclear speck	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	20118938
GO:0036064	Component	Ciliary basal body	IDA
GO:0042802	Function	Identical protein binding	IPI	16723661
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	10788320
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16414017
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	10788320
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
613979	15860	ENSG00000101161

O94906

Protein name

Pre-mRNA-processing factor 6 (Androgen receptor N-terminal domain-transactivating protein 1) (ANT-1) (PRP6 homolog) (U5 snRNP-associated 102 kDa protein) (U5-102 kDa protein)

Protein function

Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:20118938, PubMed:21549338, PubMed:28781166). Enhances dihydrotestosterone-induced transactivation activity of AR,

PDB

3JCR , 5O9Z , 6AH0 , 6AHD , 6QW6 , 6QX9 , 8H6E , 8H6J , 8H6K , 8H6L , 8Q7N , 8Q7Q , 8Q7V , 8Q7W , 8Q7X , 8Q91 , 8QO9 , 8QOZ , 8QP8 , 8QP9 , 8QPA , 8QPB , 8QPE , 8QPK , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RC0 , 8RM5 , 8Y6O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06424	PRP1_N	13 → 169	PRP1 splicing factor, N-terminal	Domain
PF13181	TPR_8	709 → 740	Tetratricopeptide repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12039962}.

Sequence

MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQM
KKNQAADDDDEDLNDTNYDEFNGYAGSLFSSGPYEKDDEEADAIYAALDKRMDERRKERR
EQREKEEIEKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLT
PVPDSFFAKHLQTGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDM
RKIGQARNTLMDMRLSQVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKS
VRETNPHHPPAWIASARLEEVTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKA
VVAQAVRHLPQSVRIYIRAAELETDIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDAR
IMLSRAVECCPTSVELWLALARLETYENARKVLNKARENIPTDRHIWITAAKLEEANGNT
QMVEKIIDRAITSLRANGVEINREQWIQDAEECDRAGSVATCQAVMRAVIGIGIEEEDRK
HTWMEDADSCVAHNALECARAIYAYALQVFPSKKSVWLRAAYFEKNHGTRESLEALLQRA
VAHCPKAEVLWLMGAKSKWLAGDVPAARSILALAFQANPNSEEIWLAAVKLESENDEYER
ARRLLAKARSSAPTARVFMKSVKLEWVQDNIRAAQDLCEEALRHYEDFPKLWMMKGQIEE
QKEMMEKAREAYNQGLKKCPHSTPLWLLLSRLEEKIGQLTRARAILEKSRLKNPKNPGLW
LESVRLEYRAGLKNIANTLMAKALQECPNSGILWSEAIFLEARPQRRTKSVDALKKCEHD
PHVLLAVAKLFWSQRKITKAREWFHRTVKIDSDLGDAWAFFYKFELQHGTEEQQEEVRKR
CESAEPRHGELWCAVSKDIANWQKKIGDILRLVAGRIKNTF

Sequence length

941

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway mRNA Splicing - Minor 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 (2)

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	rs2517639832	RCV003890424	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic	rs527236096	RCV000132667	★★★★★ ★★★★☆ 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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRPF6-related disorder	Likely benign; Benign; Uncertain significance; 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 60	Uncertain significance; Benign	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa, Dominant	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29152165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	35547734	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	12565915, 29892051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	1940445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	18809618, 22187496, 30174309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	25833713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	16107323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	16107323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	12094562, 12707443, 14557557, 15792871, 16682683, 18065439, 18195150, 19687137, 29892051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24788092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23341073	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	Diabetes	BEFREE	12013805, 28223503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12013805, 28223503		★★★★★ ★☆☆☆☆ 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
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
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	8505336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29253671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28304396, 37079368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	35547734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	18278469		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	12565915		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	12565915		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	12565915		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	12565915		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	12565915		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	12565915		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	12565915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18522758, 24788092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24788092		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	8505336		★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	8505336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28223503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	16203679, 30311946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	18809618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28225155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	16203679, 8100217, 8103757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	22187496, 25833713, 8100217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18522758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid Lipofuscinosis Type 4B	Neuronal Ceroid Lipofuscinosis	BEFREE	22235333		★★★★★ ★☆☆☆☆ 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
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37303939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	1940445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33390843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	32651461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	32335390, 39423676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	39423676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	21549338, 22235333		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	21549338, 22235333, 25833713, 32335390, 36012314, 36103774, 39423676	Associate	★★★★★ ★★★★☆ 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 60	Retinitis Pigmentosa	UNIPROT_DG	21549338		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 60	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 60	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 60	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rett Syndrome	Rett Syndrome	BEFREE	20504995		★★★★★ ★☆☆☆☆ Found in Text Mining only
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
Vision Disorders	Visual disorder	Pubtator	22235333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRPF6 (pre-mRNA processing factor 6)