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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	6101
Gene name	RP1 axonemal microtubule associated
Gene symbol	RP1
Synonyms (NCBI Gene)	DCDC4AORP1
Chromosome	8
Chromosome location	8q11.23-q12.1
Summary	This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated prote

Show/Hide all (71)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894082	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained, genic upstream transcript variant
rs104894083	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained, genic upstream transcript variant
rs118031911	C>T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, intron variant
rs142600056	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs146256526	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, intron variant
rs151316028	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant, intron variant
rs180729424	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs186571865	T>C	Likely-benign, benign, likely-pathogenic, benign-likely-benign	Genic upstream transcript variant, intron variant
rs201493928	C>T	Pathogenic	Genic upstream transcript variant, stop gained, intron variant, coding sequence variant
rs398124220	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs527236105	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs527236106	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, intron variant
rs561075447	G>A	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, stop gained
rs750542962	CTCAA>-	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs753090404	T>-	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs755429480	C>-	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs760283610	->A	Pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs762951570	G>-	Likely-pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs765129639	AT>-	Likely-pathogenic	Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant
rs769156393	C>T	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs769512989	->A	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, intron variant, coding sequence variant
rs769601671	T>-,TT	Pathogenic	Frameshift variant, genic upstream transcript variant, intron variant, coding sequence variant
rs770659908	->C	Pathogenic	Frameshift variant, genic upstream transcript variant, intron variant, coding sequence variant
rs775731489	C>A,G,T	Likely-pathogenic	Missense variant, stop gained, genic upstream transcript variant, intron variant, coding sequence variant
rs779334655	C>G	Pathogenic	Stop gained, genic upstream transcript variant, intron variant, coding sequence variant
rs786205589	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs794727640	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs797044735	->A	Pathogenic-likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs863223340	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs869320726	TAAAT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs869320727	AATA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs869320728	->TGAA	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs878853326	C>T	Pathogenic, likely-pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs878853327	G>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs878853328	C>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs878853329	GAAA>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs879399888	C>G,T	Likely-pathogenic	Stop gained, genic upstream transcript variant, missense variant, intron variant, coding sequence variant
rs886041040	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs1057518097	C>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1057524016	C>G	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, intron variant
rs1246397238	->GC	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1250214380	T>A,G	Likely-pathogenic	Stop gained, intron variant, genic upstream transcript variant, coding sequence variant
rs1278053918	ATAAG>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant
rs1422250479	A>T	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1449723475	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554519533	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1554519538	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1554519546	GATACTTTGTGAGG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1554519554	->A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1554519555	C>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1554519577	T>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1554519635	TT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1554519651	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1554519662	T>AA	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1554519822	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1554520068	G>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1563329888	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs1563330595	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1563331742	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1585557752	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1585559122	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1585561400	CT>-	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1585563087	T>-	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1585563204	A>-	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1585563283	G>T	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained
rs1585563328	GT>AA	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained
rs1585563965	C>G	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained
rs1585564175	CTTTGA>-	Pathogenic	Coding sequence variant, inframe indel, stop gained, intron variant, genic upstream transcript variant
rs1585564369	T>A	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained
rs1585567204	G>T	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained
rs1585569717	C>G	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018673	hsa-miR-335-5p	Microarray	18185580

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Transcription factor	Regulation	Reference
CREB1	Unknown	11593399

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001917	Component	Photoreceptor inner segment	IDA	11773008
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	21148103
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	IEA
GO:0005875	Component	Microtubule associated complex	ISS
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10391211
GO:0007603	Process	Phototransduction, visible light	TAS	10391211
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0009416	Process	Response to light stimulus	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0032391	Component	Photoreceptor connecting cilium	IDA	11767049
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0035082	Process	Axoneme assembly	IBA
GO:0035082	Process	Axoneme assembly	IEA
GO:0035082	Process	Axoneme assembly	ISS
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IBA
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	ISS
GO:0042461	Process	Photoreceptor cell development	IEA
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	ISS
GO:0046548	Process	Retinal rod cell development	IEA
GO:0046548	Process	Retinal rod cell development	ISS
GO:0046549	Process	Retinal cone cell development	IEA
GO:0046549	Process	Retinal cone cell development	ISS
GO:0060041	Process	Retina development in camera-type eye	IBA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0071482	Process	Cellular response to light stimulus	IEA
GO:0097542	Component	Ciliary tip	IEA
GO:0097733	Component	Photoreceptor cell cilium	IEA
GO:1902857	Process	Positive regulation of non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
603937	10263	ENSG00000104237

P56715

Protein name

Oxygen-regulated protein 1 (Retinitis pigmentosa 1 protein) (Retinitis pigmentosa RP1 protein)

Protein function

Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and c

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03607	DCX	54 → 112	Doublecortin	Family
PF03607	DCX	171 → 227	Doublecortin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen and pancreas.

Sequence

MSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSF
KSFDALLDNLSRKVPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKA
RRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPPRSLVVFRNGDPKTRRAVLLSRRVTQSF
EAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYDIQKYLLP
ARLPGISQRVYPKGNAKSESRKISTHMSSSSRSQIYSVSSEKTHNNDCYLDYSFVPEKYL
ALEKNDSQNLPIYPSEDDIEKSIIFNQDGTMTVEMKVRFRIKEEETIKWTTTVSKTGPSN
NDEKSEMSFPGRTESRSSGLKLAACSFSADVSPMERSSNQEGSLAEEINIQMTDQVAETC
SSASWENATVDTDIIQGTQDQAKHRFYRPPTPGLRRVRQKKSVIGSVTLVSETEVQEKMI
GQFSYSEERESGENKSEYHMFTHSCSKMSSVSNKPVLVQINNNDQMEESSLERKKENSLL
KSSAISAGVIEITSQKMLEMSHNNGLPSTISNNSIVEEDVVDCVVLDNKTGIKNFKTYGN
TNDRFSPISADATHFSSNNSGTDKNISEAPASEASSTVTARIDRLINEFAQCGLTKLPKN
EKKILSSVASKKKKKSRQQAINSRYQDGQLATKGILNKNERINTKGRITKEMIVQDSDSP
LKGGILCEEDLQKSDTVIESNTFCSKSNLNSTISKNFHRNKLNTTQNSKVQGLLTKRKSR
SLNKISLGAPKKREIGQRDKVFPHNESKYCKSTFENKSLFHVFNILEQKPKDFYAPQSQA
EVASGYLRGMAKKSLVSKVTDSHITLKSQKKRKGDKVKASAILSKQHATTRANSLASLKK
PDFPEAIAHHSIQNYIQSWLQNINPYPTLKPIKSAPVCRNETSVVNCSNNSFSGNDPHTN
SGKISNFVMESNKHITKIAGLTGDNLCKEGDKSFIANDTGEEDLHETQVGSLNDAYLVPL
HEHCTLSQSAINDHNTKSHIAAEKSGPEKKLVYQEINLARKRQSVEAAIQVDPIEEETPK
DLLPVLMLHQLQASVPGIHKTQNGVVQMPGSLAGVPFHSAICNSSTNLLLAWLLVLNLKG
SMNSFCQVDAHKATNKSSETLALLEILKHIAITEEADDLKAAVANLVESTTSHFGLSEKE
QDMVPIDLSANCSTVNIQSVPKCSENERTQGISSLDGGCSASEACAPEVCVLEVTCSPCE
MCTVNKAYSPKETCNPSDTFFPSDGYGVDQTSMNKACFLGEVCSLTDTVFSDKACAQKEN
HTYEGACPIDETYVPVNVCNTIDFLNSKENTYTDNLDSTEELERGDDIQKDLNILTDPEY
KNGFNTLVSHQNVSNLSSCGLCLSEKEAELDKKHSSLDDFENCSLRKFQDENAYTSFDME
EPRTSEEPGSITNSMTSSERNISELESFEELENHDTDIFNTVVNGGEQATEELIQEEVEA
SKTLELIDISSKNIMEEKRMNGIIYEIISKRLATPPSLDFCYDSKQNSEKETNEGETKMV
KMMVKTMETGSYSESSPDLKKCIKSPVTSDWSDYRPDSDSEQPYKTSSDDPNDSGELTQE
KEYNIGFVKRAIEKLYGKADIIKPSFFPGSTRKSQVCPYNSVEFQCSRKASLYDSEGQSF
GSSEQVSSSSSMLQEFQEERQDKCDVSAVRDNYCRGDIVEPGTKQNDDSRILTDIEEGVL
IDKGKWLLKENHLLRMSSENPGMCGNADTTSVDTLLDNNSSEVPYSHFGNLAPGPTMDEL
SSSELEELTQPLELKCNYFNMPHGSDSEPFHEDLLDVRNETCAKERIANHHTEEKGSHQS
ERVCTSVTHSFISAGNKVYPVSDDAIKNQPLPGSNMIHGTLQEADSLDKLYALCGQHCPI
LTVIIQPMNEEDRGFAYRKESDIENFLGFYLWMKIHPYLLQTDKNVFREENNKASMRQNL
IDNAIGDIFDQFYFSNTFDLMGKRRKQKRINFLGLEEEGNLKKFQPDLKERFCMNFLHTS
LLVVGNVDSNTQDLSGQTNEIFKAVDENNNLLNNRFQGSRTNLNQVVRENINCHYFFEML
GQACLLDICQVETSLNISNRNILELCMFEGENLFIWEEEDILNLTDLESSREQEDL

Sequence length

2156

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 (8)

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	Likely pathogenic; Pathogenic	rs750542962, rs561075447, rs1805984836, rs1805879513, rs1805900125, rs1806088809, rs1806096563, rs1806103875, rs767436678, rs1806144355	RCV001257793 RCV001257794 RCV001257792 RCV001257896 RCV001257897 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs1365908727	RCV005626318	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic; Likely pathogenic	rs869320726, rs878853328, rs1806037949	RCV006258912 RCV006253920 RCV006437007	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs775367880, rs1805986090, rs201493928, rs527236105, rs2536575548, rs750542962, rs794727640, rs104894082, rs869320726, rs762951570, rs746359399, rs557432569, rs769156393, rs878853327, rs878853329 View all (57 more)	RCV003888031 RCV003888086 RCV001075254 RCV003888564 RCV004817010 View all (68 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1174193938, rs886210482, rs754246929, rs201493928, rs527236105, rs750542962, rs863223340, rs797044735, rs869320726, rs878853328, rs1554519533, rs1554519538, rs1554519546, rs1554519554, rs1554519555 View all (31 more)	RCV001724814 RCV001724813 RCV003324568 RCV000132658 RCV000132662 View all (42 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 1	Likely pathogenic; Pathogenic	rs775367880, rs760689800, rs2129316679, rs2129317503, rs1174193938, rs1200229021, rs2129317773, rs2129314462, rs2129316359, rs2129316415, rs2129318266, rs2129316459, rs1806147660, rs1314420869, rs1444271998 View all (46 more)	RCV004796609 RCV001376205 RCV001376337 RCV001376506 RCV005868325 View all (57 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RP1-related disorder	Likely pathogenic; Pathogenic	rs201493928, rs104894082, rs2536572369, rs1365908727, rs781249059	RCV004754308 RCV004754249 RCV003391510 RCV004754683 RCV003908484	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RP1-related recessive retinopathy	Likely pathogenic; Pathogenic	rs1365669334, rs1231321479	RCV005370080 RCV005359846	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

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.
AMAUROSIS CONGENITA OF LEBER, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast ductal adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertriglyceridemia 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber optic atrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OPTIC ATROPHY, HEREDITARY, LEBER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal pigment epithelial atrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RP1-RELATED DOMINANT RETINOPATHY	—	ClinGen, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RP1-related retinal dystrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visual impairment	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RP1 (RP1 axonemal microtubule associated)