PRPF8 (pre-mRNA processing factor 8)

Gene

• Entrez ID: 10594
• Gene name: Pre-mRNA processing factor 8
• Gene symbol: PRPF8
• Synonyms (NCBI Gene): HPRP8, PRP8, PRPC8, RP13, SNRNP220
• Chromosome: 17
• Chromosome location: 17p13.3
• Summary: Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains s

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141456140	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs144851263	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147958141	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906971	G>A	Pathogenic	Coding sequence variant, missense variant
rs758937794	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs878853387	TGAGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1176869304	CTT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1555550617	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052002	hsa-let-7b-5p	CLASH	23622248
MIRT052002	hsa-let-7b-5p	CLASH	23622248
MIRT052002	hsa-let-7b-5p	CLASH	23622248
MIRT051751	hsa-let-7c-5p	CLASH	23622248
MIRT051624	hsa-let-7e-5p	CLASH	23622248
MIRT051064	hsa-miR-16-5p	CLASH	23622248
MIRT050953	hsa-miR-17-5p	CLASH	23622248
MIRT050298	hsa-miR-25-3p	CLASH	23622248
MIRT049654	hsa-miR-92a-3p	CLASH	23622248
MIRT048808	hsa-miR-93-5p	CLASH	23622248
MIRT048342	hsa-miR-106a-5p	CLASH	23622248
MIRT048232	hsa-miR-196a-5p	CLASH	23622248
MIRT047660	hsa-miR-10a-5p	CLASH	23622248
MIRT047439	hsa-miR-10b-5p	CLASH	23622248
MIRT046232	hsa-miR-27b-3p	CLASH	23622248
MIRT045825	hsa-miR-140-5p	CLASH	23622248
MIRT045253	hsa-miR-186-5p	CLASH	23622248
MIRT044089	hsa-miR-361-5p	CLASH	23622248
MIRT044089	hsa-miR-361-5p	CLASH	23622248
MIRT043237	hsa-miR-324-5p	CLASH	23622248
MIRT042093	hsa-miR-484	CLASH	23622248
MIRT041232	hsa-miR-193b-3p	CLASH	23622248
MIRT039792	hsa-miR-615-3p	CLASH	23622248
MIRT039792	hsa-miR-615-3p	CLASH	23622248
MIRT038822	hsa-miR-93-3p	CLASH	23622248
MIRT038451	hsa-miR-296-3p	CLASH	23622248
MIRT037930	hsa-miR-532-3p	CLASH	23622248
MIRT439893	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439892	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT439891	hsa-miR-381-3p	HITS-CLIP	24374217
MIRT439893	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439892	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT439891	hsa-miR-381-3p	HITS-CLIP	24374217
MIRT1265889	hsa-miR-1207-5p	CLIP-seq
MIRT1265890	hsa-miR-1231	CLIP-seq
MIRT1265891	hsa-miR-1234	CLIP-seq
MIRT1265892	hsa-miR-1324	CLIP-seq
MIRT1265893	hsa-miR-1827	CLIP-seq
MIRT1265894	hsa-miR-2467-5p	CLIP-seq
MIRT1265895	hsa-miR-3065-5p	CLIP-seq
MIRT1265896	hsa-miR-3120-5p	CLIP-seq
MIRT1265897	hsa-miR-3153	CLIP-seq
MIRT1265898	hsa-miR-3184	CLIP-seq
MIRT1265899	hsa-miR-3188	CLIP-seq
MIRT1265900	hsa-miR-3612	CLIP-seq
MIRT1265901	hsa-miR-3926	CLIP-seq
MIRT1265902	hsa-miR-3929	CLIP-seq
MIRT1265903	hsa-miR-3975	CLIP-seq
MIRT1265904	hsa-miR-423-5p	CLIP-seq
MIRT1265905	hsa-miR-4419b	CLIP-seq
MIRT1265906	hsa-miR-4421	CLIP-seq
MIRT1265907	hsa-miR-4433	CLIP-seq
MIRT1265908	hsa-miR-4459	CLIP-seq
MIRT1265909	hsa-miR-4478	CLIP-seq
MIRT1265910	hsa-miR-4649-3p	CLIP-seq
MIRT1265911	hsa-miR-4656	CLIP-seq
MIRT1265912	hsa-miR-4665-3p	CLIP-seq
MIRT1265913	hsa-miR-4695-5p	CLIP-seq
MIRT1265914	hsa-miR-4722-5p	CLIP-seq
MIRT1265915	hsa-miR-4731-3p	CLIP-seq
MIRT1265916	hsa-miR-4763-3p	CLIP-seq
MIRT1265917	hsa-miR-4768-3p	CLIP-seq
MIRT1265918	hsa-miR-4801	CLIP-seq
MIRT1265919	hsa-miR-485-5p	CLIP-seq
MIRT1265920	hsa-miR-505	CLIP-seq
MIRT1265921	hsa-miR-516b	CLIP-seq
MIRT1265922	hsa-miR-583	CLIP-seq
MIRT1265923	hsa-miR-650	CLIP-seq
MIRT1265924	hsa-miR-940	CLIP-seq
MIRT1265892	hsa-miR-1324	CLIP-seq
MIRT1265895	hsa-miR-3065-5p	CLIP-seq
MIRT1265897	hsa-miR-3153	CLIP-seq
MIRT1265901	hsa-miR-3926	CLIP-seq
MIRT1265907	hsa-miR-4433	CLIP-seq
MIRT1265908	hsa-miR-4459	CLIP-seq
MIRT1265915	hsa-miR-4731-3p	CLIP-seq
MIRT1265917	hsa-miR-4768-3p	CLIP-seq
MIRT1265918	hsa-miR-4801	CLIP-seq
MIRT1265920	hsa-miR-505	CLIP-seq
MIRT1265922	hsa-miR-583	CLIP-seq
MIRT1265890	hsa-miR-1231	CLIP-seq
MIRT1265891	hsa-miR-1234	CLIP-seq
MIRT1265892	hsa-miR-1324	CLIP-seq
MIRT1265894	hsa-miR-2467-5p	CLIP-seq
MIRT1265895	hsa-miR-3065-5p	CLIP-seq
MIRT1265896	hsa-miR-3120-5p	CLIP-seq
MIRT1265897	hsa-miR-3153	CLIP-seq
MIRT1265898	hsa-miR-3184	CLIP-seq
MIRT1265899	hsa-miR-3188	CLIP-seq
MIRT1265901	hsa-miR-3926	CLIP-seq
MIRT1265903	hsa-miR-3975	CLIP-seq
MIRT1265904	hsa-miR-423-5p	CLIP-seq
MIRT1265906	hsa-miR-4421	CLIP-seq
MIRT1265907	hsa-miR-4433	CLIP-seq
MIRT1265908	hsa-miR-4459	CLIP-seq
MIRT1265910	hsa-miR-4649-3p	CLIP-seq
MIRT1265911	hsa-miR-4656	CLIP-seq
MIRT1265912	hsa-miR-4665-3p	CLIP-seq
MIRT1265915	hsa-miR-4731-3p	CLIP-seq
MIRT1265917	hsa-miR-4768-3p	CLIP-seq
MIRT1265918	hsa-miR-4801	CLIP-seq
MIRT1265919	hsa-miR-485-5p	CLIP-seq
MIRT1265920	hsa-miR-505	CLIP-seq
MIRT1265921	hsa-miR-516b	CLIP-seq
MIRT1265922	hsa-miR-583	CLIP-seq
MIRT1265892	hsa-miR-1324	CLIP-seq
MIRT1265895	hsa-miR-3065-5p	CLIP-seq
MIRT1265897	hsa-miR-3153	CLIP-seq
MIRT1265901	hsa-miR-3926	CLIP-seq
MIRT1265907	hsa-miR-4433	CLIP-seq
MIRT1265908	hsa-miR-4459	CLIP-seq
MIRT1265915	hsa-miR-4731-3p	CLIP-seq
MIRT1265917	hsa-miR-4768-3p	CLIP-seq
MIRT1265918	hsa-miR-4801	CLIP-seq
MIRT1265920	hsa-miR-505	CLIP-seq
MIRT1265922	hsa-miR-583	CLIP-seq
MIRT1265892	hsa-miR-1324	CLIP-seq
MIRT1265895	hsa-miR-3065-5p	CLIP-seq
MIRT1265897	hsa-miR-3153	CLIP-seq
MIRT1265901	hsa-miR-3926	CLIP-seq
MIRT1265907	hsa-miR-4433	CLIP-seq
MIRT1265908	hsa-miR-4459	CLIP-seq
MIRT1265915	hsa-miR-4731-3p	CLIP-seq
MIRT1265917	hsa-miR-4768-3p	CLIP-seq
MIRT1265918	hsa-miR-4801	CLIP-seq
MIRT1265920	hsa-miR-505	CLIP-seq
MIRT1265922	hsa-miR-583	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IBA
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IDA	20595234
GO:0000375	Process	RNA splicing, via transesterification reactions	TAS	9774689
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28781166, 29301961
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	9774689, 16723661, 17332742, 18951082, 20696395, 22365833, 22720776, 23704370, 23793891, 26711270, 27173435, 28514442, 30021884, 32814053, 33961781, 35271311, 39251607
GO:0005634	Component	Nucleus	IDA	22720776, 28781166, 29301961
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	30975767
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767
GO:0005682	Component	U5 snRNP	IBA
GO:0005682	Component	U5 snRNP	TAS	9774689
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	TAS	9774689
GO:0008233	Function	Peptidase activity	IKR	17559875
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	9774689
GO:0016020	Component	Membrane	HDA	19946888
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0017070	Function	U6 snRNA binding	IBA
GO:0017070	Function	U6 snRNA binding	IEA
GO:0030532	Component	Small nuclear ribonucleoprotein complex	IEA
GO:0030619	Function	U1 snRNA binding	IBA
GO:0030620	Function	U2 snRNA binding	IBA
GO:0030623	Function	U5 snRNA binding	IBA
GO:0030623	Function	U5 snRNA binding	IEA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	23793891
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IDA	20595234
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166, 29361316, 30315277
GO:0071006	Component	U2-type catalytic step 1 spliceosome	IDA	29301961
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0097157	Function	Pre-mRNA intronic binding	IBA
GO:0140492	Function	Metal-dependent deubiquitinase activity	IKR	17559875
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 607300
• HGNC: 17340
• e!Ensembl: ENSG00000174231

Protein

• UniProt ID: Q6P2Q9
• Protein name: Pre-mRNA-processing-splicing factor 8 (220 kDa U5 snRNP-specific protein) (PRP8 homolog) (Splicing factor Prp8) (p220)
• Protein function: Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome (PubMed:10411133, PubMed:11971955, PubMed:280
• PDB: 3E9L, 3ENB, 3JCR, 3LRU, 4JK7, 4JK8, 4JK9, 4JKA, 4JKB, 4JKC, 4JKD, 4JKE, 4JKF, 4JKG, 4JKH, 4KIT, 5MQF, 5O9Z, 5XJC, 5YZG, 5Z56, 5Z57, 5Z58, 6AH0, 6AHD, 6FF4, 6FF7, 6ICZ, 6ID0, 6ID1, 6QDV, 6QW6, 6QX9, 6S8Q, 6S9I, 6ZYM, 7A5P, 7AAV, 7ABF, 7ABG, 7ABI, 7BDI, 7BDJ, 7BDK, 7BDL, 7DVQ, 7OS2, 7PJH, 7PX3, 7QTT, 7W59
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08082	PRO8NT	58 → 209	PRO8NT (NUC069), PrP8 N-terminal domain	Domain
  PF08083	PROCN	395 → 801	PROCN (NUC071) domain	Domain
  PF10598	RRM_4	986 → 1077	RNA recognition motif of the spliceosomal PrP8	Domain
  PF10597	U5_2-snRNA_bdg	1210 → 1343	U5-snRNA binding site 2 of PrP8	Domain
  PF10596	U6-snRNA_bdg	1442 → 1600	U6-snRNA interacting domain of PrP8	Domain
  PF12134	PRP8_domainIV	1760 → 1989	PRP8 domain IV core	Domain
  PF01398	JAB	2099 → 2205	JAB1/Mov34/MPN/PAD-1 ubiquitin protease	Family
  PF08084	PROCT	2212 → 2333	PROCT (NUC072) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10411133}.
• Sequence:

  MAGVFPYRGPGNPVPGPLAPLPDYMSEEKLQEKARKWQQLQAKRYAEKRKFGFVDAQKED
  MPPEHVRKIIRDHGDMTNRKFRHDKRVYLGALKYMPHAVLKLLENMPMPWEQIRDVPVLY
  HITGAISFVNEIPWVIEPVYISQWGSMWIMMRREKRDRRHFKRMRFPPFDDEEPPLDYAD
  NILDVEPLEAIQLELDPEEDAPVLDWFYDHQPLRDSRKYVNGSTYQRWQFTLPMMSTLYR
  LANQLLTDLVDDNYFYLFDLKAFFTSKALNMAIPGGPKFEPLVRDINLQDEDWNEFNDIN
  KIIIRQPIRTEYKIAFPYLYNNLPHHVHLTWYHTPNVVFIKTEDPDLPAFYFDPLINPIS
  HRHSVKSQEPLPDDDEEFELPEFVEPFLKDTPLYTDNTANGIALLWAPRPFNLRSGRTRR
  ALDIPLVKNWYREHCPAGQPVKVRVSYQKLLKYYVLNALKHRPPKAQKKRYLFRSFKATK
  FFQSTKLDWVEVGLQVCRQGYNMLNLLIHRKNLNYLHLDYNFNLKPVKTLTTKERKKSRF
  GNAFHLCREVLRLTKLVVDSHVQYRLGNVDAFQLADGLQYIFAHVGQLTGMYRYKYKLMR
  QIRMCKDLKHLIYYRFNTGPVGKGPGCGFWAAGWRVWLFFMRGITPLLERWLGNLLARQF
  EGRHSKGVAKTVTKQRVESHFDLELRAAVMHDILDMMPEGIKQNKARTILQHLSEAWRCW
  KANIPWKVPGLPTPIENMILRYVKAKADWWTNTAHYNRERIRRGATVDKTVCKKNLGRLT
  RLYLKAEQERQHNYLKDGPYITAEEAVAVYTTTVHWLESRRFSPIPFPPLSYKHDTKLLI
  LALERLKEAYSVKSRLNQSQREELGLIEQAYDNPHEALSRIKRHLLTQRAFKEVGIEFMD
  LYSHLVPVYDVEPLEKITDAYLDQYLWYEADKRRLFPPWIKPADTEPPPLLVYKWCQGIN
  NLQDVWETSEGECNVMLESRFEKMYEKIDLTLLNRLLRLIVDHNIADYMTAKNNVVINYK
  DMNHTNSYGIIRGLQFASFIVQYYGLVMDLLVLGLHRASEMAGPPQMPNDFLSFQDIATE
  AAHPIRLFCRYIDRIHIFFRFTADEARDLIQRYLTEHPDPNNENIVGYNNKKCWPRDARM
  RLMKHDVNLGRAVFWDIKNRLPRSVTTVQWENSFVSVYSKDNPNLLFNMCGFECRILPKC
  RTSYEEFTHKDGVWNLQNEVTKERTAQCFLRVDDESMQRFHNRVRQILMASGSTTFTKIV
  NKWNTALIGLMTYFREAVVNTQELLDLLVKCENKIQTRIKIGLNSKMPSRFPPVVFYTPK
  ELGGLGMLSMGHVLIPQSDLRWSKQTDVGITHFRSGMSHEEDQLIPNLYRYIQPWESEFI
  DSQRVWAEYALKRQEAIAQNRRLTLEDLEDSWDRGIPRINTLFQKDRHTLAYDKGWRVRT
  DFKQYQVLKQNPFWWTHQRHDGKLWNLNNYRTDMIQALGGVEGILEHTLFKGTYFPTWEG
  LFWEKASGFEESMKWKKLTNAQRSGLNQIPNRRFTLWWSPTINRANVYVGFQVQLDLTGI
  FMHGKIPTLKISLIQIFRAHLWQKIHESIVMDLCQVFDQELDALEIETVQKETIHPRKSY
  KMNSSCADILLFASYKWNVSRPSLLADSKDVMDSTTTQKYWIDIQLRWGDYDSHDIERYA
  RAKFLDYTTDNMSIYPSPTGVLIAIDLAYNLHSAYGNWFPGSKPLIQQAMAKIMKANPAL
  YVLRERIRKGLQLYSSEPTEPYLSSQNYGELFSNQIIWFVDDTNVYRVTIHKTFEGNLTT
  KPINGAIFIFNPRTGQLFLKIIHTSVWAGQKRLGQLAKWKTAEEVAALIRSLPVEEQPKQ
  IIVTRKGMLDPLEVHLLDFPNIVIKGSELQLPFQACLKVEKFGDLILKATEPQMVLFNLY
  DDWLKTISSYTAFSRLILILRALHVNNDRAKVILKPDKTTITEPHHIWPTLTDEEWIKVE
  VQLKDLILADYGKKNNVNVASLTQSEIRDIILGMEISAPSQQRQQIAEIEKQTKEQSQLT
  ATQTRTVNKHGDEIITSTTSNYETQTFSSKTEWRVRAISAANLHLRTNHIYVSSDDIKET
  GYTYILPKNVLKKFICISDLRAQIAGYLYGVSPPDNPQVKEIRCIVMVPQWGTHQTVHLP
  GQLPQHEYLKEMEPLGWIHTQPNESPQLSPQDVTTHAKIMADNPSWDGEKTIIITCSFTP
  GSCTLTAYKLTPSGYEWGRQNTDKGNNPKGYLPSHYERVQMLLSDRFLGFFMVPAQSSWN
  YNFMGVRHDPNMKYELQLANPKEFYHEVHRPSHFLNFALLQEGEVYSADREDLYA

• Sequence length: 2335

Pathways

KEGG:

Spliceosome

Reactome:

mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant retinitis pigmentosa	Likely pathogenic; Pathogenic	rs752997229	RCV001257799	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRPF8-related disorder	Pathogenic; Likely pathogenic	rs2151116846, rs1555550617	RCV004758825 RCV004758716	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs121434236, rs1911001854	RCV006253449 RCV006439584	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs121434236, rs121434238, rs2543709616, rs1911000715, rs878853387, rs2543711147, rs2543721006, rs2151125849, rs748407996, rs752997229, rs1555550617, rs1193604660, rs121434239, rs1911391944	RCV001073694 RCV001073295 RCV001074988 RCV003889214 RCV004817198 RCV000225622 RCV003889807 RCV003889812 RCV003889822 RCV003889832 RCV003889914 RCV001074369 RCV001073515 RCV001075866 RCV001075481	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1064797215, rs752997229, rs1555550617, rs1176869304, rs1479391155	RCV001199518 RCV000504770 RCV001003134 RCV001003135 RCV001249887	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 13	Likely pathogenic; Pathogenic	rs1911505318, rs773363890, rs121434236, rs121434238, rs121434239, rs121434240, rs2543733653, rs387906971, rs1911001854, rs1064797215, rs752997229, rs1555550617, rs1597223214, rs1911391944	RCV001535680 RCV002471192 RCV000003519 RCV000003520 RCV000003521 RCV000003522 RCV000003523 RCV004554995 RCV000023643 RCV000023644 RCV001376216 RCV001542603 RCV000761333 RCV000989677 RCV005633882	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choroideremia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneo-trabecular dysgenesis	Likely 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; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	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 14	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	CTD_human_DG	29531354		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31696658		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29023197		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29023197, 32365829, 35124606	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	38049848	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	28878028	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36609600	Stimulate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	CTD_human_DG	29531354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Craniopharyngioma	Craniopharyngioma	Pubtator	40581690	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34545810	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
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28707069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	Pubtator	28707069	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma Open Angle	Open angle glaucoma	Pubtator	28707069	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	28707069		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34545810	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	29531354		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
LATE-ONSET RETINAL DEGENERATION (disorder)	RETINAL DEGENERATION	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24781015, 27983727	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31766606		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29023197		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30279207		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24781015, 30333215		★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25428262		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24220272	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	31766606		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24781015, 26392272		★☆☆☆☆ 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
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32690086	Associate	★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	29023197		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	29023197		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30279207		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15786732		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26371515	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	16799052, 39795970	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11468273, 15126168, 16020312, 17317632, 17934474, 19098916, 20232351, 21378395, 25111227, 26392272, 26968627, 27072132, 28515276, 30103670		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	11468273		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	11910553, 17317632, 18695108, 19096719		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	15994872, 16799052, 17317632, 17934474, 19098916, 20232351, 21378395, 23559859, 23950152, 24969741, 26392272, 26968627, 28045043, 28076437, 28515276, 28677533, 28707069, 30572641, 33157387, 35138024, 36685344, 39388803, 40022903, 40318521, 8571961, 8782056	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ 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	11468273, 18334927		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 13	Retinitis Pigmentosa	UNIPROT_DG	11468273, 11910553, 12714658, 17317632		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 13	Retinitis Pigmentosa	CLINVAR_DG	24938718		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 13	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 13	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
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	16020312		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28878028	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Intermediate	Uveitis	Pubtator	36685344	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	40022903	Associate	★☆☆☆☆ Found in Text Mining only