Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	94137
Gene name	RP1 like 1
Gene symbol	RP1L1
Synonyms (NCBI Gene)	DCDC4BOCMDRP88
Chromosome	8
Chromosome location	8p23.1
Summary	This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of whi

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138816053	->A	Benign, conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant
rs187433303	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201810499	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs202082944	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267607017	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607018	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs377269054	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs387907367	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs527236107	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs748984657	G>T	Pathogenic	Missense variant, coding sequence variant
rs756996764	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs767562322	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs771427543	->A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant
rs773440242	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs781490139	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs986853401	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1045490638	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1585959862	G>A	Pathogenic	Coding sequence variant, stop gained
rs1585963931	->AACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCT	Pathogenic	Coding sequence variant, inframe insertion

Show/Hide all (37)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017889	hsa-miR-335-5p	Microarray	18185580
MIRT051113	hsa-miR-16-5p	CLASH	23622248
MIRT441710	hsa-miR-4428	PAR-CLIP	22100165
MIRT441708	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT441709	hsa-miR-1909-5p	PAR-CLIP	22100165
MIRT441706	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441710	hsa-miR-4428	PAR-CLIP	22100165
MIRT441708	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT441709	hsa-miR-1909-5p	PAR-CLIP	22100165
MIRT441706	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441710	hsa-miR-4428	PAR-CLIP	22100165
MIRT441708	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT441709	hsa-miR-1909-5p	PAR-CLIP	22100165
MIRT441706	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441710	hsa-miR-4428	PAR-CLIP	22100165
MIRT441708	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT441709	hsa-miR-1909-5p	PAR-CLIP	22100165
MIRT441706	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT1315310	hsa-miR-495	CLIP-seq
MIRT1315311	hsa-miR-570	CLIP-seq
MIRT1315312	hsa-miR-621	CLIP-seq
MIRT2318228	hsa-miR-1184	CLIP-seq
MIRT2318229	hsa-miR-1205	CLIP-seq
MIRT2318230	hsa-miR-146a	CLIP-seq
MIRT2318231	hsa-miR-146b-5p	CLIP-seq
MIRT2318232	hsa-miR-219-1-3p	CLIP-seq
MIRT2318233	hsa-miR-3158-5p	CLIP-seq
MIRT2318234	hsa-miR-3166	CLIP-seq
MIRT2318235	hsa-miR-3194-3p	CLIP-seq
MIRT2318236	hsa-miR-3198	CLIP-seq
MIRT2318237	hsa-miR-4309	CLIP-seq
MIRT2318238	hsa-miR-4653-3p	CLIP-seq
MIRT2318239	hsa-miR-4771	CLIP-seq
MIRT1315310	hsa-miR-495	CLIP-seq
MIRT2318240	hsa-miR-580	CLIP-seq
MIRT2318241	hsa-miR-589	CLIP-seq
MIRT2318242	hsa-miR-760	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	ISS
GO:0007601	Process	Visual perception	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0035082	Process	Axoneme assembly	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IBA
GO:0042461	Process	Photoreceptor cell development	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IBA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	23281133
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0060041	Process	Retina development in camera-type eye	IBA

MIM	HGNC	e!Ensembl
608581	15946	ENSG00000183638

Q8IWN7

Protein name

Retinitis pigmentosa 1-like 1 protein

Protein function

Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03607	DCX	52 → 110	Doublecortin	Family
PF03607	DCX	169 → 225	Doublecortin	Family

Tissue specificity

TISSUE SPECIFICITY: Retinal-specific; expressed in photoreceptor.

Sequence

MNSTPRNAQAPSHRECFLPSVARTPSVTKVTPAKKITFLKRGDPRFAGVRLAVHQRAFKT
FSALMDELSQRVPLSFGVRSVTTPRGLHSLSALEQLEDGGCYLCSDKKPPKTPSGPGRPQ
ERNPTAQQLRDVEGQREAPGTSSSRKSLKTPRRILLIKNMDPRLQQTVVLSHRNTRNLAA
FLGKASDLLRFPVKQLYTTSGKKVDSLQALLHSPSVLVCAGHEAFRTPAMKNARRSEAET
LSGLTSRNKNGSWGPKTKPSVIHSRSPPGSTPRLPERPGPSNPPVGPAPGRHPQDTPAQS
GPLVAGDDMKKKVRMNEDGSLSVEMKVRFHLVGEDTLLWSRRMGRASALTAASGEDPVLG
EVDPLCCVWEGYPWGFSEPGVWGPRPCRVGCREVFGRGGQPGPKYEIWTNPLHASQGERV
AARKRWGLAQHVRCSGLWGHGTAGRERCSQDSASPASSTGLPEGSEPESSCCPRTPEDGV
DSASPSAQIGAERKAGGSLGEDPGLCIDGAGLGGPEQGGRLTPRARSEEGASSDSSASTG
SHEGSSEWGGRPQGCPGKARAETSQQEASEGGDPASPALSLSSLRSDDLQAETQGQGTEQ
ATGAAVTREPLVLGLSCSWDSEGASSTPSTCTSSQQGQRRHRSRASAMSSPSSPGLGRVA
PRGHPRHSHYRKDTHSPLDSSVTKQVPRPPERRRACQDGSVPRYSGSSSSTRTQASGNLR
PPSSGSLPSQDLLGTSSATVTPAVHSDFVSGVSPHNAPSAGWAGDAGSRTCSPAPIPPHT
SDSCSKSGAASLGEEARDTPQPSSPLVLQVGRPEQGAVGPHRSHCCSQPGTQPAQEAQRG
PSPEASWLCGRYCPTPPRGRPCPQRRSSSCGSTGSSHQSTARGPGGSPQEGTRQPGPTPS
PGPNSGASRRSSASQGAGSRGLSEEKTLRSGGGPQGQEEASGVSPSSLPRSSPEAVVREW
LDNIPEEPILMTYELADETTGAAGGGLRGPEVDPGDDHSLEGLGEPAQAGQQSLEGDPGQ
DPEPEGALLGSSDTGPQSGEGVPQGAAPEGVSEAPAEAGADREAPAGCRVSLRALPGRVS
ASTQIMRALMGSKQGRPSSVPEVSRPMARRLSCSAGALITCLASLQLFEEDLGSPASKVR
FKDSPRYQELLSISKDLWPGCDVGEDQLDSGLWELTWSQALPDLGSHAMTENFTPTSSSG
VDISSGSGGSGESSVPCAMDGTLVTQGTELPLKTSNQRPDSRTYESPGDLENQQQCCFPT
FLNARACACATNEDEAERDSEEQRASSNLEQLAENTVQEEVQLEETKEGTEGEGLQEEAV
QLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEG
PEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAE
PCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAA
ERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAEL
QQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFS
ERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATR
GPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGV
DEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISER
GETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDA
QEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETE
SVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEAL
EVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGE
TQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEG
VEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPE
SEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEE
AQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPP
PSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKA
TRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF

Sequence length

2400

Interactions

View interactions

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Pathogenic	rs1585963931	RCV001257840	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Occult macular dystrophy	Likely pathogenic; Pathogenic	rs267607017, rs371886218, rs1797772026	RCV000002277 RCV002489719 RCV001283766	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Likely pathogenic; Pathogenic	rs267607017	RCV004814802	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs267607017, rs1250273464, rs767002915, rs752436391, rs1797840556, rs78127667, rs2117206210, rs2486317956, rs749294164, rs763759470, rs1797868307, rs749460193, rs371886218, rs1797910388	RCV001074376 RCV003891218 RCV003891225 RCV003891243 RCV003889385 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 88	Likely pathogenic; Pathogenic	rs1797899160, rs760478436, rs777475406, rs755599243, rs267601690, rs267607017, rs387907367, rs1585959862, rs748984657, rs1585963931, rs749460193, rs371886218	RCV001352980 RCV001352996 RCV001376184 RCV001591847 RCV002225214 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RP1L1-related disorder	Likely pathogenic	rs902876049, rs2486300886	RCV003412168 RCV003408403	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (33)

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.
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE DYSTROPHY	—	Disgenet Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex with nail dystrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stargardt disease	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULNAR-FIBULAR RAY DEFECT AND BRACHYDACTYLY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulnar/fibula ray defect-brachydactyly syndrome	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	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 (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38243319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	BEFREE	25692141		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone Dystrophy	Cone dystrophy	Pubtator	25692141	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eye Diseases Hereditary	Eye disease	Pubtator	36729443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	33879469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	22605915, 28473427, 31028767, 32707201, 32940107, 34994768, 38265784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OCCULT MACULAR DYSTROPHY	OCCULT MACULAR DYSTROPHY	BEFREE	20826268, 22466457, 22504327, 22605915, 23229695, 23281133, 23745001, 26782618, 27623337, 28473427, 29196766, 30025130, 31028767		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OCCULT MACULAR DYSTROPHY	OCCULT MACULAR DYSTROPHY	UNIPROT_DG	20826268, 22605915		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OCCULT MACULAR DYSTROPHY	OCCULT MACULAR DYSTROPHY	GENOMICS_ENGLAND_DG	20826268		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OCCULT MACULAR DYSTROPHY	OCCULT MACULAR DYSTROPHY	ORPHANET_DG	20826268		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Occult macular dystrophy	OCCULT MACULAR DYSTROPHY	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OCCULT MACULAR DYSTROPHY	OCCULT MACULAR DYSTROPHY	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OCCULT MACULAR DYSTROPHY	OCCULT MACULAR DYSTROPHY	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	38095640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	23281133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	36161854, 38098057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	23281133		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	32749464, 38417719	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	Retinitis Pigmentosa	BEFREE	12724644		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	26330360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar-Fibular Ray Defect and Brachydactyly	Ulnar-Fibular Ray Defect And Brachydactyly	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vision Disorders	Visual disorder	Pubtator	32940107, 38265784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RP1L1 (RP1 like 1)