RPGRIP1 (RPGR interacting protein 1)

Gene

• Entrez ID: 57096
• Gene name: RPGR interacting protein 1
• Gene symbol: RPGRIP1
• Synonyms (NCBI Gene): CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by R

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs10151259	G>T	Likely-benign, benign, pathogenic, not-provided	Coding sequence variant, missense variant
rs17103671	A>G	Likely-benign, pathogenic, benign-likely-benign, benign	Coding sequence variant, missense variant
rs28937883	G>A,T	Not-provided, pathogenic	Intron variant, coding sequence variant, missense variant
rs61751266	A>-	Not-provided, pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs61751270	->T	Pathogenic	Coding sequence variant, frameshift variant
rs75459701	C>T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, stop gained
rs137853124	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs140904308	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs147586703	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant
rs150107283	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs190490019	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs192003551	C>A,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, synonymous variant, stop gained
rs199590641	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant
rs200510462	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs201384449	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs372615343	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs374188857	A>G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs376500610	G>A	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs398124354	G>A	Pathogenic	Coding sequence variant, stop gained
rs535922252	A>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs554396590	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs565837539	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs574462207	A>G	Pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs577932201	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, intron variant
rs587783012	CGAAGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783018	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, stop gained
rs587783019	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs751342895	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs751521888	A>G,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs752175052	C>T	Pathogenic	Stop gained, coding sequence variant
rs752263228	C>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs758239674	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs759940113	C>A,T	Pathogenic	Stop gained, intron variant, synonymous variant, coding sequence variant
rs771116776	G>A,T	Pathogenic	Splice donor variant
rs775935766	C>T	Likely-pathogenic, uncertain-significance	Intron variant, stop gained, coding sequence variant
rs776289402	->T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs776698746	->CT	Pathogenic	Frameshift variant, coding sequence variant
rs776880045	A>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs780587095	C>G,T	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs780667159	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs781728563	G>-	Likely-pathogenic	Intron variant
rs786205623	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863224913	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs878853389	->A	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs878853390	T>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs878853391	T>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs878853392	A>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs886039911	AGAGGTGAGTTGCCATCATCA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, genic upstream transcript variant
rs1057518122	G>A	Likely-pathogenic, pathogenic	Intron variant
rs1064797181	G>A	Uncertain-significance, pathogenic	Upstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs1064797182	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1325103400	G>A	Pathogenic	Splice donor variant
rs1371805993	C>T	Pathogenic	Stop gained, coding sequence variant
rs1420750126	GAACTGGAGG>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1429786931	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1555302200	->TT	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1555302710	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555303320	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1566341956	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1566674809	AATAATTTAGCGCCTTTCTCTGCAGAGCTTCCATTAAAGAGAAGGTAGAGCTGATTCGACTTAAGAAG>-	Pathogenic	Genic upstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1594180177	GA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1594202505	G>C	Pathogenic	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1594203796	G>A	Likely-pathogenic	5 prime UTR variant, intron variant
rs1594214013	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1594224781	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594280740	GTTTA>-	Pathogenic	Splice acceptor variant, intron variant, coding sequence variant
rs1594280914	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029762	hsa-miR-26b-5p	Microarray	19088304
MIRT1315621	hsa-miR-584	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16339905, 21224891, 25398945, 25416956, 25910212, 26638075, 26871637, 27173435, 31515488
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0046548	Process	Retinal rod cell development	IBA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0097730	Component	Non-motile cilium	IEA
GO:0120206	Component	Photoreceptor distal connecting cilium	IEA
GO:1905515	Process	Non-motile cilium assembly	IBA

Other IDs

• MIM: 605446
• HGNC: 13436
• e!Ensembl: ENSG00000092200

Protein

• UniProt ID: Q96KN7
• Protein name: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGR-interacting protein 1)
• Protein function: May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival
• PDB: 4QAM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11618	C2-C2_1	618 → 757	First C2 domain of RPGR-interacting protein 1	Domain
  PF00168	C2	799 → 908	C2 domain	Domain
  PF18111	RPGR1_C	1114 → 1279	Retinitis pigmentosa G-protein regulator interacting C-terminal	Domain

• Tissue specificity: TISSUE SPECIFICITY: Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments. {ECO:0000269|PubMed:10958647, E
• Sequence:

  MSHLVDPTSGDLPVRDIDAIPLVLPASKGKNMKTQPPLSRMNREELEDSFFRLREDHMLV
  KELSWKQQDEIKRLRTTLLRLTAAGRDLRVAEEAAPLSETARRGQKAGWRQRLSMHQRPQ
  MHRLQGHFHCVGPASPRRAQPRVQVGHRQLHTAGAPVPEKPKRGPRDRLSYTAPPSFKEH
  ATNENRGEVASKPSELVSGSNSIISFSSVISMAKPIGLCMPNSAHIMASNTMQVEEPPKS
  PEKMWPKDENFEQRSSLECAQKAAELRASIKEKVELIRLKKLLHERNASLVMTKAQLTEV
  QEAYETLLQKNQGILSAAHEALLKQVNELRAELKEESKKAVSLKSQLEDVSILQMTLKEF
  QERVEDLEKERKLLNDNYDKLLESMLDSSDSSSQPHWSNELIAEQLQQQVSQLQDQLDAE
  LEDKRKVLLELSREKAQNEDLKLEVTNILQKHKQEVELLQNAATISQPPDRQSEPATHPA
  VLQENTQIEPSEPKNQEEKKLSQVLNELQVSHAETTLELEKTRDMLILQRKINVCYQEEL
  EAMMTKADNDNRDHKEKLERLTRLLDLKNNRIKQLEGILRSHDLPTSEQLKDVAYGTRPL
  SLCLETLPAHGDEDKVDISLLHQGENLFELHIHQAFLTSAALAQAGDTQPTTFCTYSFYD
  FETHCTPLSVGPQPLYDFTSQYVMETDSLFLHYLQEASARLDIHQAMASEHSTLAAGWIC
  FDRVLETVEKVHGLATLIGAGGEEFGVLEYWMRLRFPIKPSLQACNKRKKAQVYLSTDVL
  GGRKAQEEEFRSESWEPQNELWIEITKCCGLRSRWLGTQPSPYAVYRFFTFSDHDTAIIP
  ASNNPYFRDQARFPVLVTSDLDHYLRREALSIHVFDDEDLEPGSYLGRARVPLLPLAKNE
  SIKGDFNLTDPAEKPNGSIQVQLDWKFPYIPPESFLKPEAQTKGKDTKDSSKISSEEEKA
  SFPSQDQMASPEVPIEAGQYRSKRKPPHGGERKEKEHQVVSYSRRKHGKRIGVQGKNRME
  YLSLNILNGNTPEQVNYTEWKFSETNSFIGDGFKNQHEEEEMTLSHSALKQKEPLHPVND
  KESSEQGSEVSEAQTTDSDDVIVPPMSQKYPKADSEKMCIEIVSLAFYPEAEVMSDENIK
  QVYVEYKFYDLPLSETETPVSLRKPRAGEEIHFHFSKVIDLDPQEQQGRRRFLFDMLNGQ
  DPDQGHLKFTVVSDPLDEEKKECEEVGYAYLQLWQILESGRDILEQELDIVSPEDLATPI
  GRLKVSLQAAAVLHAIYKEMTEDLFS

• Sequence length: 1286

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
Abnormality of the eye	Pathogenic	rs565837539	RCV000504829	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Color vision defect	Likely pathogenic	rs1555302200	RCV000626951	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Pathogenic	rs1883036406	RCV001199769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs1420750126	RCV002267761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy 13	Pathogenic; Likely pathogenic	rs398124354, rs61751266, rs1181453325, rs2139156519, rs2139160608, rs763671264, rs771116776, rs1225223445, rs1233376985, rs2139175288, rs1881002905, rs1412625438, rs2139168888, rs1566674893, rs2139350315, rs2139228423, rs546692544, rs2139160679, rs2139227650, rs768719934, rs375859404, rs772090790, rs970696880, rs200968268, rs2139288271, rs2139176356, rs587783018, rs771106795, rs2502752916, rs758678811, rs774271975, rs192003551, rs1324633537, rs28937883, rs2502848608, rs2502950630, rs2502847733, rs863224913, rs2502753195, rs2502723295, rs2502981606, rs577932201, rs780587095, rs1439947338, rs2502710900, rs535695411, rs2502674313, rs750815560, rs1416794391, rs371900300, rs2502690278, rs2502711239, rs1348586850, rs1279095388, rs752175052, rs1064797182, rs776880045, rs565837539, rs780667159, rs775935766, rs751342895, rs1429786931, rs554396590, rs776289402, rs1566341956, rs374188857, rs75459701, rs759940113, rs752263228, rs1030149008, rs376500610, rs61751270, rs1420750126, rs1371805993, rs1594224781, rs1594280914, rs1594280740, rs535922252, rs745741473, rs1882968821, rs1739469293, rs1883254940, rs1881077003, rs775425686, rs1885194108, rs1880999471, rs1167313603, rs766443371, rs748072501, rs368781265, rs776963292, rs1885757549	RCV001800387 RCV001047199 RCV001381712 RCV001388371 RCV001381649 RCV001387658 RCV001931715 RCV001999910 RCV001863942 RCV001920939 RCV001958920 RCV001891436 RCV002007259 RCV002007139 RCV002037770 RCV001876898 RCV002018117 RCV001963002 RCV001958667 RCV001956430 RCV001871080 RCV001875567 RCV002048259 RCV001975616 RCV001948841 RCV001922256 RCV001380810 RCV003062612 RCV003079173 RCV003098964 RCV002602786 RCV000175918 RCV002635361 RCV000005274 RCV002890476 RCV002867673 RCV002933549 RCV000195884 RCV003016409 RCV003045809 RCV003044972 RCV002516255 RCV002518810 RCV005220741 RCV003781400 RCV003787544 RCV003788383 RCV003792304 RCV003806158 RCV003790886 RCV003791448 RCV003802833 RCV003795242 RCV003802722 RCV003807396 RCV001387165 RCV001800704 RCV001238890 RCV001215982 RCV001382205 RCV001238568 RCV001854022 RCV001800828 RCV002532181 RCV001201958 RCV000701424 RCV000701308 RCV000686083 RCV000762921 RCV000714541 RCV001335049 RCV001800880 RCV001228179 RCV001858702 RCV001380451 RCV001862727 RCV001385916 RCV003769397 RCV001800914 RCV001034879 RCV001062863 RCV001054263 RCV001862500 RCV001212958 RCV001237909 RCV001236080 RCV001238762 RCV001236081 RCV001238536 RCV001238537 RCV001880011 RCV001389834 RCV002537617 RCV003770355	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Horizontal nystagmus	Likely pathogenic	rs1555302200	RCV000626951	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs398124354, rs61751266, rs587783012, rs137853124, rs2502980632, rs1439947338, rs1057518122, rs1064797182, rs776880045, rs565837539, rs1555302710, rs780667159, rs1555303320, rs775935766, rs751342895, rs759940113, rs1420750126, rs745741473, rs748072501	RCV000710048 RCV000786015 RCV001262111 RCV000787885 RCV003123514 RCV003486516 RCV000515742 RCV001199768 RCV000504638 RCV002230986 RCV005418176 RCV000504726 RCV000504916 RCV003226328 RCV002282254 RCV000710047 RCV001844254 RCV004526076 RCV003324559	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 1	Pathogenic; Likely pathogenic	rs780667159, rs376500610, rs61751270	RCV000989177 RCV000989170 RCV000989176	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 6	Pathogenic; Likely pathogenic	rs398124354, rs2139160690, rs61751266, rs61751268, rs61751271, rs61751265, rs1181453325, rs2139156519, rs2139160608, rs763671264, rs765001696, rs771116776, rs1225223445, rs1233376985, rs2139175288, rs1881002905, rs1412625438, rs2139168888, rs1566674893, rs2139350315, rs2139228423, rs546692544, rs2139160679, rs2139227650, rs768719934, rs375859404, rs772090790, rs970696880, rs200968268, rs2139288271, rs2139176356, rs535922252, rs587783012, rs587783018, rs587783019, rs751096098, rs771106795, rs786205623, rs2502752916, rs758678811, rs774271975, rs192003551, rs1324633537, rs137853124, rs2502848608, rs2502950630, rs2502847733, rs2502753195, rs2502723295, rs2502981606, rs878853392, rs577932201, rs886039911, rs780587095, rs1439947338, rs2502710900, rs535695411, rs2502674313, rs750815560, rs1416794391, rs371900300, rs2502690278, rs2502711239, rs1348586850, rs1279095388, rs2502705961, rs752175052, rs1064797182, rs776880045, rs565837539, rs1555302710, rs780667159, rs775935766, rs751342895, rs1429786931, rs776698746, rs1555302200, rs554396590, rs776289402, rs1566341956, rs374188857, rs75459701, rs759940113, rs1566674809, rs752263228, rs1030149008, rs376500610, rs61751270, rs1420750126, rs1371805993, rs1594224781, rs1594280914, rs1594202505, rs1594203796, rs1325103400, rs1594280740, rs1594180177, rs745741473, rs1882968821, rs1739469293, rs1883254940, rs1881077003, rs775425686, rs1885194108, rs1880999471, rs1167313603, rs766443371, rs1883084009, rs748072501, rs1884133804, rs780733881, rs1391335025, rs368781265, rs776963292, rs1882904268, rs1882946937, rs1885186332, rs1885757549, rs1885763952	RCV001800386 RCV001376537 RCV000171128 RCV001261183 RCV002225287 RCV001261170 RCV001381712 RCV001388371 RCV001381649 RCV001387658 RCV001526702 RCV001931715 RCV001999910 RCV001863942 RCV001920939 RCV001958920 RCV001891436 RCV002007259 RCV002007139 RCV002037770 RCV001876898 RCV002018117 RCV001963002 RCV001958667 RCV001956430 RCV001871080 RCV001875567 RCV002048259 RCV001975616 RCV001948841 RCV001922256 RCV000144462 RCV000144463 RCV000144469 RCV000144470 RCV002250894 RCV003062612 RCV001261172 RCV003079173 RCV003098964 RCV002602786 RCV001261169 RCV002635361 RCV000005271 RCV002890476 RCV002867673 RCV002933549 RCV003016409 RCV003045809 RCV003044972 RCV001198056 RCV002516255 RCV000256440 RCV002518810 RCV005220741 RCV003781400 RCV003787544 RCV003788383 RCV003792304 RCV003806158 RCV003790886 RCV003791448 RCV003802833 RCV003795242 RCV003802722 RCV003807396 RCV003989944 RCV001261193 RCV001800703 RCV001238890 RCV001215982 RCV001261187 RCV001261192 RCV001238568 RCV001854022 RCV001389835 RCV000625855 RCV001261186 RCV000678628 RCV000678627 RCV000701424 RCV000701308 RCV000686083 RCV000754600 RCV000754601 RCV000714540 RCV000761349 RCV001800879 RCV001228179 RCV001858702 RCV001267701 RCV001862727 RCV001385916 RCV003769397 RCV001005012 RCV001005013 RCV001005014 RCV001005011 RCV001005021 RCV001034879 RCV001062863 RCV001054263 RCV001862500 RCV001212958 RCV001237909 RCV001236080 RCV001238762 RCV001236081 RCV001238536 RCV001238537 RCV001261176 RCV001261175 RCV001261174 RCV001261188 RCV001261171 RCV001261178 RCV001261179 RCV001261181 RCV001261182 RCV001261184 RCV001261189 RCV001261177 RCV001261190	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Pathogenic	rs771116776	RCV005924269	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic	rs1371805993	RCV006272304	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs1740380459, rs28937883, rs878853392, rs878853391, rs878853390, rs577932201, rs878853389, rs371900300, rs1429786931, rs1555302200, rs776289402, rs752263228, rs376500610, rs1420750126, rs1594280740, rs535922252, rs745741473, rs1882854195, rs1882945917, rs1883031542, rs1739469293	RCV004815592 RCV004794325 RCV000225543 RCV000225431 RCV000225615 RCV000225680 RCV000225501 RCV004818414 RCV001074918 RCV000626951 RCV001075715 RCV001074662 RCV004818098 RCV004818143 RCV001074771 RCV001074229 RCV001075703 RCV001074230 RCV001073673 RCV001074723 RCV001073416	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs192003551, rs1555302710, rs1594214013, rs1371805993, rs1594224781, rs1594280914	RCV005417990 RCV000505086 RCV001003209 RCV001003210 RCV001003211 RCV001003212	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RPGRIP1-related disorder	Likely pathogenic; Pathogenic	rs775935766, rs75459701	RCV003420017 RCV003403585	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visual impairment	Likely pathogenic	rs1555302200	RCV000626951	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMAUROSIS CONGENITA OF LEBER, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy, Recessive	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 7	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MECKEL SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS, PATHOLOGIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OPTIC ATROPHY, HEREDITARY, LEBER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	16123401, 16339905, 17306875, 18632300, 20384479, 21602930, 23278760, 24066033, 25414380, 28453600, 29193763, 29203866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anencephaly	Anencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	19430481, 21685204		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	16806805, 24091916, 28993665, 29203866, 30139995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 13	Cone-rod dystrophy	UNIPROT_DG	10958648, 12920076		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 13	Cone-rod dystrophy	CLINVAR_DG	11528500, 20079931, 23105016, 26667666		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 13	Cone-rod dystrophy	GENOMICS_ENGLAND_DG	12920076		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 13	Cone-rod dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	12920076, 26992781		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	16806805, 24091916, 28993665, 29203866, 30139995		★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Amaurosis of Retinal Origin	Dysgenesis Neuroepithelialis Retinae	CTD_human_DG	11283794, 11528500		★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	BEFREE	16339905		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjugate Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Convergence Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic liver disease	Cystic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	22425971		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dissociated Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	19430481		★☆☆☆☆ Found in Text Mining only
Fatigable Positional Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	21224891		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	21224891	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	21224891, 34427245	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	21224891		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	CTD_human_DG	11283794		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Horizontal Nystagmus	Horizontal nystagmus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jerk Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	11283794, 11528500, 15800011, 16244324, 16339905, 16352478, 16806805, 17306875, 17558407, 20384479, 21685204, 23505306, 25096270, 25414380, 27880076, 28456785, 28993665, 29193763, 29203866		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CTD_human_DG	11283794, 11528500		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	11283794, 15024725, 18682808, 18936139, 19753312, 21602930, 24066033, 25775262, 27880076, 28456785, 28966547, 29193763, 29844330, 31087526, 32736544, 33670832, 33907365, 36369640, 37761981, 39728598, 40296824	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	11528500, 25685757		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG	30718709		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 6 (disorder)	Leber Congenital Amaurosis	UNIPROT_DG	11528500, 17306875, 17554762, 18682808, 24981858		★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS 6 (disorder)	Leber Congenital Amaurosis	CLINVAR_DG	11528500, 20079931, 23105016, 26667666, 30576320		★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS 6 (disorder)	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG	12920076		★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS 6 (disorder)	Leber Congenital Amaurosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	21224891		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	33907365	Associate	★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meckel syndrome	Meckel Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	BEFREE	21685204		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multidirectional Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	16339905		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16244324		★☆☆☆☆ Found in Text Mining only
Non-Fatigable Positional Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	11283794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	CTD_human_DG	11283794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus Pathologic	Nystagmus	Pubtator	11283794	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29657248		★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	21685204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodic Alternating Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Permanent Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rebound Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	30072743, 31087526, 33907365	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	12140192, 15800011		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	25775262	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	12140192, 16806805		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CTD_human_DG	12920076		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	15370538, 16123401, 16272259, 16339905, 16352478, 17306875, 28456785, 29203866		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	16272259		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	16272259		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	16272259, 28456785, 29193763, 30543658, 33907365, 40296824	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retraction Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	16806805, 24091916, 28993665, 29203866, 30139995		★☆☆☆☆ Found in Text Mining only
Rotary Nystagmus	Rotary nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
See-Saw Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spontaneous Ocular Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Symptomatic Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temporary Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unidirectional Nystagmus	Nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Nystagmus	Vertical nystagmus	CTD_human_DG	11283794		★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	10958647		★☆☆☆☆ Found in Text Mining only