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

Show/Hide all (1)

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

Show/Hide all (1)

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

615

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV001257890 RCV001257891 RCV001257892 RCV001257893 RCV001257894
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs1365908727	RCV005626318
Retinal disorder	Pathogenic; Likely pathogenic	rs869320726, rs878853328, rs1806037949	RCV006258912 RCV006253920 RCV006437007
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 RCV001074391 RCV004794373 RCV001074787 RCV001073327 RCV003888645 RCV000225478 RCV000225662 RCV000225575 RCV000225399 RCV000225395 RCV000225475 RCV000225583 RCV004794383 RCV004818425 RCV003889456 RCV003889458 RCV003889466 RCV003889467 RCV003889469 RCV003889471 RCV003889472 RCV003889473 RCV003889474 RCV003889475 RCV003889477 RCV003889482 RCV003889484 RCV003889485 RCV003889487 RCV003889488 RCV003889496 RCV000504978 RCV003889913 RCV001073948 RCV001075558 RCV004817724 RCV004817748 RCV001075841 RCV001075044 RCV000787688 RCV004818013 RCV004794455 RCV004794467 RCV004818128 RCV001073530 RCV004794472 RCV004818168 RCV004818169 RCV001075166 RCV004813608 RCV001074374 RCV001073978 RCV001074646 RCV001073682 RCV001075478 RCV001074942 RCV001074169 RCV001074884 RCV001074531 RCV001073282 RCV001073411 RCV001075869 RCV001075719 RCV001074919 RCV001074390 RCV004813994 RCV004814034 RCV004814057
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 RCV003324518 RCV000201456 RCV001199748 RCV000504689 RCV000504648 RCV000504878 RCV000505100 RCV000504701 RCV000504862 RCV000505089 RCV000504915 RCV000505147 RCV000504747 RCV000504901 RCV000505130 RCV000505029 RCV001199749 RCV001724105 RCV000988060 RCV000787694 RCV000787689 RCV000787690 RCV000787691 RCV000787692 RCV000787693 RCV000787695 RCV000787696 RCV000787697 RCV000787881 RCV000988058 RCV000988059 RCV000988061 RCV001003177 RCV001003178 RCV001003179 RCV001199751 RCV001199746 RCV001199747 RCV001199750 RCV005418995 RCV001249889 RCV001249890
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 RCV005253844 RCV001526737 RCV001591840 RCV001591843 RCV001591844 RCV001591845 RCV001591846 RCV001774817 RCV001784914 RCV001783687 RCV001808205 RCV001376316 RCV002225178 RCV002250296 RCV002287763 RCV005254688 RCV000006329 RCV000006330 RCV000006331 RCV000006332 RCV000006335 RCV000490313 RCV005235144 RCV003127197 RCV003226003 RCV003226004 RCV000258903 RCV004786995 RCV001376315 RCV006261975 RCV001353032 RCV000678612 RCV004584142 RCV001376417 RCV000625599 RCV000678611 RCV000678609 RCV000678610 RCV002294381 RCV000985170 RCV001376505 RCV002290514 RCV005633801 RCV001376228 RCV001029941 RCV001376206 RCV002497411 RCV005251249 RCV005253715 RCV001784642 RCV001199314 RCV005866883 RCV001376336 RCV003485699 RCV001780209 RCV001262598 RCV003336366
RP1-related disorder	Likely pathogenic; Pathogenic	rs201493928, rs104894082, rs2536572369, rs1365908727, rs781249059	RCV004754308 RCV004754249 RCV003391510 RCV004754683 RCV003908484
RP1-related recessive retinopathy	Likely pathogenic; Pathogenic	rs1365669334, rs1231321479	RCV005370080 RCV005359846

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Breast ductal adenocarcinoma	Uncertain significance	rs869320622	RCV000207233
Familial cancer of breast	Uncertain significance	rs760740229	RCV005925674
Hypertriglyceridemia 1	Benign; Likely benign	rs2293869	RCV001851697
Leber congenital amaurosis 1	Conflicting classifications of pathogenicity	rs1554519422	RCV000659269
Leber optic atrophy	Uncertain significance	rs1315126444	RCV001290414
Optic atrophy	Uncertain significance	rs780301238	RCV004816717
Retinal pigment epithelial atrophy	Uncertain significance	rs780301238	RCV000626896
Retinitis Pigmentosa, Dominant	Uncertain significance; Likely benign	rs10654889, rs140712625, rs74632105	RCV000291831 RCV000383956 RCV000330512 RCV000337449
RP1-related retinal dystrophy	Uncertain significance	rs1339553429, rs758334212	RCV001095772 RCV001095773
Visual impairment	Uncertain significance	rs780301238	RCV000626896

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albinism	Associate	39596324
Amaurosis congenita of Leber type 1	Associate	33712029
Arthritis Rheumatoid	Stimulate	10366101
Atrophy	Associate	32565670
Autoimmune Diseases	Associate	7610041
Carcinoma Renal Cell	Associate	26061684
Cataract	Associate	37493686
Choroideremia	Associate	23940504
Ciliopathies	Associate	31253780, 39596324
Color Vision Defects	Associate	23940504
Cone Rod Dystrophies	Associate	22052604, 23940504, 25692139, 32565670
Crohn Disease	Associate	37493686
Disease	Associate	33712029
Emphysema	Associate	16504044
Emphysema	Inhibit	18295997
Ependymoma	Associate	31822682
Fundus Albipunctatus	Associate	32587456
Glioma	Associate	15460906
Intracranial Aneurysm	Associate	31250579
Leber Congenital Amaurosis	Associate	23940504, 31253780
Macular Degeneration	Associate	32565670, 34183725
Macular Edema	Associate	37648803
Malignant Teratocarcinosarcoma	Associate	31650822
Monosomy	Associate	21199755
Neoplasms	Associate	14514668, 31822682
Pancreatitis	Associate	23844040
Refsum Disease Infantile	Associate	27391102, 30718709
Retinal Diseases	Associate	10391212, 10484783, 32423767, 32565670, 40724865
Retinal Dystrophies	Associate	28761320, 29068140, 32565670, 33712029, 35205402, 39596324
Retinitis	Associate	11864893, 40724865
Retinitis Pigmentosa	Associate	10391212, 10484783, 11864893, 15994872, 16568030, 16597330, 16799052, 19339744, 20664799, 21347327, 22052604, 22110072, 23049240, 23077400, 23940504 View all (26 more)
Retinitis Pigmentosa	Stimulate	32098976
Spinal Cord Neoplasms	Associate	31822682
Stomach Neoplasms	Associate	29358861
Usher Syndromes	Associate	23940504

RP1 (RP1 axonemal microtubule associated)