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	346007
Gene name	Eyes shut homolog
Gene symbol	EYS
Synonyms (NCBI Gene)	C6orf178C6orf179C6orf180EGFL10EGFL11RP25SPAMbA166P24.2bA307F22.3bA74E24.1dJ1018A4.2dJ22I17.2dJ303F19.1
Chromosome	6
Chromosome location	6q12
Summary	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript var

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Show/Hide all (124)

SNP ID	Visualize variation	Clinical significance	Consequence
rs12663916	G>A,T	Pathogenic, benign, likely-benign	Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs112822256	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137853189	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs142450703	C>T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs143327210	G>C	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs143994166	A>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs145102275	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147641443	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs148019592	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs181169439	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs182151153	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs182322608	A>G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs186499459	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs188093810	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs191846522	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs192059823	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs199740930	C>T	Likely-pathogenic, uncertain-significance	Splice donor variant, genic downstream transcript variant
rs200387978	G>A	Uncertain-significance, likely-pathogenic	Intron variant
rs201580493	A>T	Likely-pathogenic, benign-likely-benign, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs201819948	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs201823777	C>T	Pathogenic	Coding sequence variant, stop gained
rs368458853	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs371032798	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant
rs372354156	A>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs373441420	C>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs374714909	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs398123574	T>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs398123575	A>C	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs527236064	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs527236065	->T	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs527236066	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs527236068	C>G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs527236071	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs527236072	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs527236073	->CCTCTTGA	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs527236074	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs527236075	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs527236076	A>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs527236077	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs527236078	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs549456693	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs747069281	TAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs749103801	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs749410700	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs749909863	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs750840208	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs751629543	AGGAA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs752683070	G>C	Pathogenic	Stop gained, coding sequence variant
rs752736741	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs752930400	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs752953889	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs758899480	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs760798455	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs761238771	TATAAGC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs764163418	T>-,TT	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs764229134	GT>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs770111708	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs776204925	C>A	Likely-pathogenic	Missense variant, splice donor variant, coding sequence variant
rs776564041	C>T	Likely-pathogenic	Splice acceptor variant
rs777482895	A>G,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs777735735	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs778030177	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs779983752	A>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs786205652	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794727120	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs794727631	G>A	Pathogenic	Stop gained, coding sequence variant
rs797045089	G>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs868349465	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs878853253	TCTTCACAGTCACCATA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs878853349	AT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs878853350	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs886042613	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886044304	AATG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs902462590	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs919157306	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs928803207	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs930421180	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs983691310	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1064796020	C>-	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1167742176	C>G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1168101857	T>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1168129071	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1197105310	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1197863938	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1291867456	G>A,T	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, missense variant, coding sequence variant
rs1305702728	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1318739667	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1345460401	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1346842287	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1391928253	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs1435861529	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1466666397	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1468020897	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1471994744	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1554152094	CTG>-	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs1554169630	GC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554183432	G>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554183440	ACTGAGCCTGTCAATGGTGGCAGATT>TA	Likely-pathogenic	Inframe indel, genic downstream transcript variant, coding sequence variant, stop gained
rs1554204963	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554214453	A>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554220416	GCATCAACAA>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562079278	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562079314	AA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562109990	->T	Pathogenic	Coding sequence variant, stop gained
rs1562140604	ACTT>-	Likely-pathogenic, uncertain-significance	Splice donor variant, coding sequence variant, intron variant
rs1562154478	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562263385	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1582146096	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582176424	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1582221424	TTTC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582249186	GGTTTTGCTGACACCT>AGAAA	Pathogenic	Coding sequence variant, frameshift variant
rs1582376398	CAGCCACTTAGAATTAACAGT>AAAAG	Pathogenic	Coding sequence variant, frameshift variant
rs1582376560	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582376609	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1582571021	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582753394	CCTTTA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, splice donor variant
rs1582928662	A>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1582929649	GAGT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582930081	GG>CT	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1582930536	->GC	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582932583	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1583260302	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583277585	CCATT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583442540	AC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023100	hsa-miR-124-3p	Microarray	18668037
MIRT527609	hsa-miR-494-3p	PAR-CLIP	22012620
MIRT527608	hsa-miR-4680-5p	PAR-CLIP	22012620
MIRT527607	hsa-miR-376a-5p	PAR-CLIP	22012620
MIRT527606	hsa-miR-510-3p	PAR-CLIP	22012620
MIRT527609	hsa-miR-494-3p	PAR-CLIP	22012620
MIRT527608	hsa-miR-4680-5p	PAR-CLIP	22012620
MIRT527607	hsa-miR-376a-5p	PAR-CLIP	22012620
MIRT527606	hsa-miR-510-3p	PAR-CLIP	22012620
MIRT973855	hsa-miR-382	CLIP-seq
MIRT973856	hsa-miR-653	CLIP-seq
MIRT973857	hsa-miR-1246	CLIP-seq
MIRT973858	hsa-miR-129-5p	CLIP-seq
MIRT973859	hsa-miR-151-3p	CLIP-seq
MIRT973860	hsa-miR-181a	CLIP-seq
MIRT973861	hsa-miR-181b	CLIP-seq
MIRT973862	hsa-miR-181c	CLIP-seq
MIRT973863	hsa-miR-181d	CLIP-seq
MIRT973864	hsa-miR-23a	CLIP-seq
MIRT973865	hsa-miR-23b	CLIP-seq
MIRT973866	hsa-miR-23c	CLIP-seq
MIRT973867	hsa-miR-28-3p	CLIP-seq
MIRT973868	hsa-miR-297	CLIP-seq
MIRT973869	hsa-miR-30a	CLIP-seq
MIRT973870	hsa-miR-30b	CLIP-seq
MIRT973871	hsa-miR-30c	CLIP-seq
MIRT973872	hsa-miR-30d	CLIP-seq
MIRT973873	hsa-miR-30e	CLIP-seq
MIRT973874	hsa-miR-3122	CLIP-seq
MIRT973875	hsa-miR-3127-5p	CLIP-seq
MIRT973876	hsa-miR-3143	CLIP-seq
MIRT973877	hsa-miR-3149	CLIP-seq
MIRT973878	hsa-miR-3201	CLIP-seq
MIRT973879	hsa-miR-3607-3p	CLIP-seq
MIRT973880	hsa-miR-383	CLIP-seq
MIRT973881	hsa-miR-3913-5p	CLIP-seq
MIRT973882	hsa-miR-3918	CLIP-seq
MIRT973883	hsa-miR-410	CLIP-seq
MIRT973884	hsa-miR-4262	CLIP-seq
MIRT973885	hsa-miR-4282	CLIP-seq
MIRT973886	hsa-miR-4289	CLIP-seq
MIRT973887	hsa-miR-4427	CLIP-seq
MIRT973888	hsa-miR-450b-3p	CLIP-seq
MIRT973889	hsa-miR-4699-5p	CLIP-seq
MIRT973890	hsa-miR-4709-3p	CLIP-seq
MIRT973891	hsa-miR-4713-3p	CLIP-seq
MIRT973892	hsa-miR-4729	CLIP-seq
MIRT973893	hsa-miR-4791	CLIP-seq
MIRT973894	hsa-miR-495	CLIP-seq
MIRT973895	hsa-miR-496	CLIP-seq
MIRT973896	hsa-miR-513a-3p	CLIP-seq
MIRT973897	hsa-miR-543	CLIP-seq
MIRT973898	hsa-miR-579	CLIP-seq
MIRT973899	hsa-miR-628-5p	CLIP-seq
MIRT973900	hsa-miR-638	CLIP-seq
MIRT973901	hsa-miR-769-3p	CLIP-seq
MIRT973885	hsa-miR-4282	CLIP-seq
MIRT1988504	hsa-miR-1305	CLIP-seq
MIRT1988505	hsa-miR-137	CLIP-seq
MIRT973876	hsa-miR-3143	CLIP-seq
MIRT1988506	hsa-miR-3647-3p	CLIP-seq
MIRT973886	hsa-miR-4289	CLIP-seq
MIRT1988507	hsa-miR-4307	CLIP-seq
MIRT1988508	hsa-miR-4522	CLIP-seq
MIRT1988509	hsa-miR-4698	CLIP-seq
MIRT1988510	hsa-miR-4760-3p	CLIP-seq
MIRT1988511	hsa-miR-4760-5p	CLIP-seq
MIRT1988512	hsa-miR-4762-5p	CLIP-seq
MIRT1988513	hsa-miR-4796-5p	CLIP-seq
MIRT973897	hsa-miR-543	CLIP-seq
MIRT973899	hsa-miR-628-5p	CLIP-seq
MIRT2222955	hsa-miR-3646	CLIP-seq
MIRT2222956	hsa-miR-494	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0007601	Process	Visual perception	IEA
GO:0033165	Component	Interphotoreceptor matrix	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IMP	21826682
GO:0048589	Process	Developmental growth	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	18836446, 18976725, 20696082, 22363543
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
612424	21555	ENSG00000188107

Q5T1H1

Protein name

Protein eyes shut homolog (Epidermal growth factor-like protein 10) (EGF-like protein 10) (Epidermal growth factor-like protein 11) (EGF-like protein 11) (Protein spacemaker homolog)

Protein function

Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00008	EGF	176 → 210	EGF-like domain	Domain
PF00008	EGF	685 → 712	EGF-like domain	Domain
PF12661	hEGF	742 → 763	Human growth factor-like EGF	Domain
PF00008	EGF	775 → 805	EGF-like domain	Domain
PF12661	hEGF	899 → 920	Human growth factor-like EGF	Domain
PF00008	EGF	932 → 962	EGF-like domain	Domain
PF00008	EGF	1008 → 1038	EGF-like domain	Domain
PF12661	hEGF	1088 → 1109	Human growth factor-like EGF	Domain
PF00008	EGF	1121 → 1157	EGF-like domain	Domain
PF12661	hEGF	1170 → 1191	Human growth factor-like EGF	Domain
PF02210	Laminin_G_2	1911 → 2045	Laminin G domain	Domain
PF00008	EGF	2103 → 2138	EGF-like domain	Domain
PF02210	Laminin_G_2	2179 → 2317	Laminin G domain	Domain
PF02210	Laminin_G_2	2455 → 2585	Laminin G domain	Domain
PF00008	EGF	2614 → 2644	EGF-like domain	Domain
PF00008	EGF	2652 → 2687	EGF-like domain	Domain
PF02210	Laminin_G_2	2745 → 2877	Laminin G domain	Domain
PF12661	hEGF	2905 → 2926	Human growth factor-like EGF	Domain
PF02210	Laminin_G_2	3007 → 3141	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in retina (at protein level) (PubMed:18836446, PubMed:18976725, PubMed:27737822, PubMed:27846257). Isoform 1: Detected in retina (PubMed:27846257). Isoform 2: Detected in retina (PubMed:27846257). Isoform 3: Strongly expresse

Sequence

MTDKSIVILSLMVFHSSFINGKTCRRQLVEEWHPQPSSYVVNWTLTENICLDFYRDCWFL
GVNTKIDTSGNQAVPQICPLQIQLGDILVISSEPSLQFPEINLMNVSETSFVGCVQNTTT
EDQLLFGCRLKGMHTVNSKWLSVGTHYFITVMASGPSPCPLGLRLNVTVKQQFCQESLSS
EFCSGHGKCLSEAWSKTYSCHCQPPFSGKYCQELDACSFKPCKNNGSCINKRENWDEQAY
ECVCHPPFTGKNCSEIIGQCQPHVCFHGNCSNITSNSFICECDEQFSGPFCEVSAKPCVS
LLFWKRGICPNSSSAYTYECPKGSSSQNGETDVSEFSLVPCQNGTDCIKISNDVMCICSP
IFTDLLCKSIQTSCESFPLRNNATCKKCEKDYPCSCISGFTEKNCEKAIDHCKLLSINCL
NEEWCFNIIGRFKYVCIPGCTKNPCWFLKNVYLIHQHLCYCGVTFHGICQDKGPAQFEYV
WQLGFAGSEGEKCQGVIDAYFFLAANCTEDATYVNDPEDNNSSCWFPHEGTKEICANGCS
CLSEEDSQEYRYLCFLRWAGNMYLENTTDDQENECQHEAVCKDEINRPRCSCSLSYIGRL
CVVNVDYCLGNHSISVHGLCLALSHNCNCSGLQRYERNICEIDTEDCKSASCKNGTTSTH
LRGYFFRKCVPGFKGTQCEIDIDECASHPCKNGATCIDQPGNYFCQCVPPFKVVDGFSCL
CNPGYVGIRCEQDIDDCILNACEHNSTCKDLHLSYQCVCLSDWEGNFCEQESNECKMNPC
KNNSTCTDLYKSYRCECTSGWTGQNCSEEINECDSDPCMNGGLCHESTIPGQFVCLCPPL
YTGQFCHQRYNLCDLLHNPCRNNSTCLALVDANQHCICREEFEGKNCEIDVKDCLFLSCQ
DYGDCEDMVNNFRCICRPGFSGSLCEIEINECSSEPCKNNGTCVDLTNRFFCNCEPEYHG
PFCELDVNKCKISPCLDEENCVYRTDGYNCLCAPGYTGINCEINLDECLSEPCLHDGVCI
DGINHYTCDCKSGFFGTHCETNANDCLSNPCLHGRCTELINEYPCSCDADGTSTQCKIKI
NDCTSIPCMNEGFCQKSAHGFTCICPRGYTGAYCEKSIDNCAEPELNSVICLNGGICVDG
PGHTFDCRCLPGFSGQFCEININECSSSPCLHGADCEDHINGYVCKCQPGWSGHHCENEL
ECIPNSCVHELCMENEPGSTCLCTPGFMTCSIGLLCGDEIRRITCLTPIFQRTDPISTQT
YTIPPSETLVSSFPSIKATRIPAIMDTYPVDQGPKQTGIVKHDILPTTGLATLRISTPLE
SYLLQELIVTRELSAKHSLLSSADVSSSRFLNFGIRDPAQIVQDKTSVSHMPIRTSAATL
GFFFPDRRARTPFIMSSLMSDFIFPTQSLLFENCQTVALSATPTTSVIRSIPGADIELNR
QSLLSRGFLLIAASISATPVVSRGAQEDIEEYSADSLISRREHWRLLSPSMSPIFPAKVI
ISKQVTILNSSALHRFSTKAFNPSEYQAITEASSNQRLTNIKSQAADSLRELSQTCATCS
MTEIKSSREFSDQVLHSKQSHFYETFWMNSAILASWYALMGAQTITSGHSFSSATEITPS
VAFTEVPSLFPSKKSAKRTILSSSLEESITLSSNLDVNLCLDKTCLSIVPSQTISSDLMN
SDLTSKMTTDELSVSENILKLLKIRQYGITMGPTEVLNQESLLDMEKSKGSHTLFKLHPS
DSSLDFELNLQIYPDVTLKTYSEITHANDFKNNLPPLTGSVPDFSEVTTNVAFYTVSATP
ALSIQTSSSMSVIRPDWPYFTDYMTSLKKEVKTSSEWSKWELQPSVQYQEFPTASRHLPF
TRSLTLSSLESILAPQRLMISDFSCVRYYGDSYLEFQNVALNPQNNISLEFQTFSSYGLL
LYVKQDSNLVDGFFIQLFIENGTLKYHFYCPGEAKFKSINTTVRVDNGQKYTLLIRQELD
PCNAELTILGRNTQICESINHVLGKPLPKSGSVFIGGFPDLHGKIQMPVPVKNFTGCIEV
IEINNWRSFIPSKAVKNYHINNCRSQGFMLSPTASFVDASDVTQGVDTMWTSVSPSVAAP
SVCQQDVCHNGGTCHAIFLSSGIVSFQCDCPLHFTGRFCEKDAGLFFPSFNGNSYLELPF
LKFVLEKEHNRTVTIYLTIKTNSLNGTILYSNGNNCGKQFLHLFLVEGRPSVKYGCGNSQ
NILTVSANYSINTNAFTPITIRYTTPVGSPGVVCMIEMTADGKPPVQKKDTEISHASQAY
FESMFLGHIPANVQIHKKAGPVYGFRGCILDLQVNNKEFFIIDEARHGKNIENCHVPWCA
HHLCRNNGTCISDNENLFCECPRLYSGKLCQFASCENNPCGNGATCVPKSGTDIVCLCPY
GRSGPLCTDAINITQPRFSGTDAFGYTSFLAYSRISDISFHYEFHLKFQLANNHSALQNN
LIFFTGQKGHGLNGDDFLAVGLLNGSVVYSYNLGSGIASIRSEPLNLSLGVHTVHLGKFF
QEGWLKVDDHKNKSIIAPGRLVGLNVFSQFYVGGYSEYTPDLLPNGADFKNGFQGCIFTL
QVRTEKDGHFRGLGNPEGHPNAGRSVGQCHASPCSLMKCGNGGTCIESGTSVYCNCTTGW
KGSFCTETVSTCDPEHDPPHHCSRGATCISLPHGYTCFCPLGTTGIYCEQALILIVILEK
PKPAERKVKKEALSISDPSFRSNELSWMSFASFHVRKKTHIQLQFQPLAADGILFYAAQH
LKAQSGDFLCISLVNSSVQLRYNLGDRTIILETLQKVTINGSTWHIIKAGRVGAEGYLDL
DGINVTEKASTKMSSLDTNTDFYIGGVSSLNLVNPMAIENEPVGFQGCIRQVIINNQELQ
LTEFGAKGGSNVGDCDGTACGYNTCRNGGECTVNGTTFSCRCLPDWAGNTCNQSVSCLNN
LCLHQSLCIPDQSFSYSCLCTLGWVGRYCENKTSFSTAKFMGNSYIKYIDPNYRMRNLQF
TTISLNFSTTKTEGLIVWMGIAQNEENDFLAIGLHNQTLKIAVNLGERISVPMSYNNGTF
CCNKWHHVVVIQNQTLIKAYINNSLILSEDIDPHKNFVALNYDGICYLGGFEYGRKVNIV
TQEIFKTNFVGKIKDVVFFQEPKNIELIKLEGYNVYDGDEQNEVT

Sequence length

3165

Interactions

View interactions

2457

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the eye	Likely pathogenic; Pathogenic	rs980430860	RCV001814363
Autosomal recessive retinitis pigmentosa	Pathogenic; Likely pathogenic	rs786205652, rs752953889, rs751629543, rs868349465, rs928803207, rs779372264, rs34676630, rs1766687373	RCV001257880 RCV001272875 RCV001271839 RCV001257882 RCV001274881 RCV001257881 RCV001257884 RCV001257883
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs2150022860	RCV005419184
EYS-related disorder	Likely pathogenic; Pathogenic	rs933169926, rs1770112191, rs527236076, rs527236067, rs137853190, rs749909863, rs373441420, rs758109813, rs770748359, rs2533169906, rs868349465, rs371032798, rs769824975, rs780433094, rs779372264, rs909730457 View all (1 more)	RCV003416296 RCV004752116 RCV003905241 RCV004751283 RCV003914789 RCV003895170 RCV003398889 RCV004751416 RCV004751444 RCV003939055 RCV004751660 RCV004751720 RCV003918614 RCV004751869 RCV004751877 RCV003983852
EYS-related retinopathy	Likely pathogenic; Pathogenic	rs752736741, rs368159852	RCV005357896 RCV005359740
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs752736741	RCV005901512
Macular dystrophy	Likely pathogenic; Pathogenic	rs868349465, rs1562140604	RCV000678568 RCV000678564
Retinal dystrophy	Likely pathogenic; Pathogenic	rs2150463984, rs199830721, rs2149624477, rs1428994453, rs2149856749, rs1766182274, rs779877426, rs2150016080, rs1293996279, rs894122437, rs1770111064, rs2149832523, rs2149831862, rs768092887, rs1447628856 View all (134 more)	RCV003888078 RCV003888079 RCV003888088 RCV003888083 RCV004815516 RCV003888090 RCV004815611 RCV003888388 RCV004815753 RCV004816770 RCV003888364 RCV003888345 RCV004816822 RCV003888943 RCV004817291 RCV003888554 RCV001075666 RCV003888555 RCV001074415 RCV003888557 RCV001074003 RCV001075385 RCV001075403 RCV003888609 RCV001075263 RCV001074850 RCV001073643 RCV004816290 RCV004817111 RCV001073318 RCV001074844 RCV004817130 RCV004817169 RCV003889206 RCV000210301 RCV000225657 RCV000225412 RCV000225560 RCV001073786 RCV004818308 RCV001074689 RCV003889302 RCV003889303 RCV004818345 RCV004818370 RCV004818404 RCV001074382 RCV003891014 RCV003891022 RCV003891025 RCV003891027 RCV003891029 RCV003891031 RCV003891038 RCV003891052 RCV003891053 RCV003891055 RCV003891061 RCV003891063 RCV003891064 RCV003891067 RCV003891068 RCV003891075 RCV003891076 RCV003891081 RCV003891085 RCV003891086 RCV003891088 RCV003891094 RCV003891096 RCV003891099 RCV003889894 RCV001075860 RCV001073638 RCV004817735 RCV000505158 RCV001073598 RCV000505143 RCV001073246 RCV004817906 RCV004817904 RCV001073669 RCV001073812 RCV003889965 RCV001075526 RCV003889964 RCV004817916 RCV004817915 RCV001075396 RCV001073470 RCV001074431 RCV004817991 RCV003889981 RCV003889980 RCV004818036 RCV001073821 RCV004818032 RCV004818051 RCV001073642 RCV004818132 RCV004818166 RCV004818165 RCV003890163 RCV001074982 RCV001075748 RCV003890167 RCV001073953 RCV001074465 RCV001073224 RCV003890210 RCV004813692 RCV001075353 RCV004813613 RCV001073831 RCV001075328 RCV001073496 RCV001074352 RCV001073340 RCV001074989 RCV001074123 RCV001075632 RCV001074805 RCV001073839 RCV001075654 RCV001073872 RCV001074455 RCV001074457 RCV001074342 RCV001074458 RCV001073358 RCV001075210 RCV001075722 RCV001074685 RCV001073671 RCV001074016 RCV001073570 RCV001073571 RCV001073569 RCV001075122 RCV001075662 RCV001074014 RCV001073342 RCV001073634 RCV003891097 RCV004813875 RCV003887912 RCV004813916 RCV003887974 RCV003887967 RCV000210330 RCV001074553
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs933169926, rs1378663182, rs2149802267, rs992863438, rs866804139, rs1177052380, rs1029564423, rs779877426, rs2149830976, rs2149830970, rs1270977202, rs758506938, rs1239854361, rs1186771860, rs527236077 View all (115 more)	RCV001724305 RCV004801001 RCV001724309 RCV003388034 RCV001724860 RCV001724863 RCV001724864 RCV001731169 RCV001844539 RCV001844542 RCV003401828 RCV002236191 RCV003324574 RCV005238182 RCV000132621 RCV000132622 RCV000132624 RCV000132625 RCV000132626 RCV000132627 RCV000132628 RCV000132629 RCV000132630 RCV000132631 RCV000132633 RCV000132634 RCV000132635 RCV000132636 RCV001723527 RCV002238596 RCV005433187 RCV002282842 RCV003235758 RCV001723741 RCV001199681 RCV001723749 RCV001274886 RCV000787594 RCV001272882 RCV000505178 RCV001272876 RCV003230445 RCV003114370 RCV001003018 RCV001249880 RCV003987459 RCV001272872 RCV003234982 RCV000787595 RCV001003010 RCV003324695 RCV003324697 RCV004801376 RCV000367978 RCV001003017 RCV000505047 RCV000505036 RCV000504846 RCV000504650 RCV000505007 RCV000504892 RCV000504992 RCV000504800 RCV000504982 RCV000504787 RCV000504898 RCV000609645 RCV001276908 RCV000787602 RCV001779051 RCV000787599 RCV001003015 RCV001003024 RCV004800521 RCV001003013 RCV001003028 RCV000787601 RCV001274884 RCV000779514 RCV000778798 RCV000787603 RCV000787596 RCV000787592 RCV000787589 RCV000787600 RCV000787593 RCV000787591 RCV000787597 RCV001276904 RCV001260372 RCV001271841 RCV001272869 RCV001276910 RCV001724203 RCV001003021 RCV003226411 RCV001003009 RCV001003011 RCV001003014 RCV001003016 RCV001003023 RCV001003025 RCV001003029 RCV001199687 RCV001199686 RCV001199685 RCV001199684 RCV001199810 RCV001199682 RCV001199690 RCV001199688 RCV003331034 RCV001844263 RCV001260371 RCV002222664 RCV001274888 RCV003230630 RCV001724220 RCV003155355 RCV001724233 RCV001702082 RCV003226443 RCV003323834 RCV001724275 RCV002307708 RCV001249878 RCV001249882 RCV001249881 RCV001249879 RCV000504744
Retinitis pigmentosa 25	Likely pathogenic; Pathogenic	rs1352380841, rs933169926, rs2149664330, rs1297699863, rs1767601116, rs2150076887, rs2150286198, rs747923761, rs2127271977, rs1378663182, rs2150463984, rs943468139, rs960578029, rs2150363733, rs761229979 View all (432 more)	RCV003469562 RCV001376254 RCV001376453 RCV001376307 RCV001376404 RCV001376319 RCV001376317 RCV001376359 RCV001376525 RCV003462951 RCV005253823 RCV003469634 RCV001826125 RCV001836382 RCV005038172 RCV001826150 RCV004570971 RCV003463036 RCV001580594 RCV002499820 RCV003462977 RCV003469738 RCV001587393 RCV001826173 RCV003473950 RCV003469715 RCV003469681 RCV003469712 RCV003469760 RCV003469673 RCV001831383 RCV003136056 RCV003463032 RCV003463039 RCV004570950 RCV003463015 RCV003469735 RCV003473982 RCV003469768 RCV005038210 RCV003470857 RCV001580700 RCV001580701 RCV001591934 RCV001591935 RCV001591936 RCV001591939 RCV001591940 RCV003463059 RCV003470880 RCV002506743 RCV001781064 RCV001781065 RCV001781066 RCV001781067 RCV001807908 RCV001808029 RCV001808306 RCV001823477 RCV003464203 RCV004571606 RCV004571610 RCV003389504 RCV004571613 RCV005868436 RCV003470984 RCV003471006 RCV003471194 RCV004571551 RCV005614733 RCV005253958 RCV004571461 RCV003471116 RCV003470955 RCV003485750 RCV003471125 RCV005032004 RCV003471158 RCV003471281 RCV003464171 RCV005614689 RCV003471143 RCV003471144 RCV003471176 RCV002449561 RCV003471198 RCV005038420 RCV003471085 RCV004571431 RCV004571984 RCV003470989 RCV004571519 RCV004571434 RCV003471204 RCV003471279 RCV006263683 RCV003462050 RCV001334821 RCV001826794 RCV004567157 RCV000678571 RCV001826795 RCV001808400 RCV000000564 RCV000000567 RCV000000568 RCV002225231 RCV002249943 RCV002249944 RCV002249945 RCV003471307 RCV002290303 RCV002444352 RCV002444353 RCV002444354 RCV002444355 RCV002444357 RCV002444358 RCV002444361 RCV002444362 RCV002466929 RCV002471379 RCV004572721 RCV003475486 RCV005616561 RCV003465940 RCV001376308 RCV003459739 RCV003992208 RCV003459757 RCV003468854 RCV001826878 RCV003465982 RCV000176281 RCV000176623 RCV002250587 RCV000763560 RCV003464573 RCV003464569 RCV003475402 RCV003234802 RCV003464585 RCV005616439 RCV003465833 RCV000190583 RCV000190584 RCV003464606 RCV004571799 RCV003465860 RCV003464627 RCV003464643 RCV003459694 RCV004572547 RCV005045160 RCV003146731 RCV003459693 RCV005045161 RCV003459705 RCV003465906 RCV003459710 RCV004572676 RCV005869987 RCV001828049 RCV001376517 RCV000664630 RCV000340528 RCV003230309 RCV001833328 RCV001376403 RCV000367405 RCV003460055 RCV003468007 RCV003468008 RCV003468009 RCV003476405 RCV003460056 RCV003468011 RCV003468012 RCV003468013 RCV003468014 RCV003468015 RCV003468016 RCV003460058 RCV003460059 RCV003468017 RCV003468018 RCV003460060 RCV003460061 RCV003468019 RCV003468020 RCV003468021 RCV003460062 RCV003468022 RCV003460063 RCV003460064 RCV003468023 RCV003468024 RCV003468025 RCV003460065 RCV003468026 RCV003460066 RCV003460067 RCV003468027 RCV003460068 RCV003460069 RCV003460071 RCV003460072 RCV003468028 RCV003460073 RCV003468029 RCV003468030 RCV003460074 RCV003460075 RCV003468031 RCV003460076 RCV003460077 RCV003460078 RCV003468032 RCV003468033 RCV003460079 RCV003460080 RCV003460081 RCV003468034 RCV003468035 RCV003468036 RCV003468037 RCV003468038 RCV003468039 RCV003468040 RCV003468041 RCV003460082 RCV003468042 RCV003468043 RCV003468044 RCV003468045 RCV003460083 RCV003468046 RCV003468047 RCV003468048 RCV003460084 RCV003468049 RCV003468050 RCV003468051 RCV003468052 RCV003468053 RCV003468054 RCV003468055 RCV003468057 RCV003468059 RCV003468060 RCV003468061 RCV003468062 RCV003468063 RCV003460085 RCV003468064 RCV003460086 RCV003468065 RCV003468066 RCV003460087 RCV003468067 RCV003468068 RCV003468069 RCV003460088 RCV003468070 RCV003468071 RCV003468072 RCV003468073 RCV003460089 RCV003460090 RCV003460091 RCV003460092 RCV003460093 RCV003460094 RCV003460095 RCV003460096 RCV003460097 RCV003460098 RCV003468075 RCV003460099 RCV003495347 RCV004574084 RCV003985631 RCV005047755 RCV004574303 RCV004573230 RCV000667003 RCV005033900 RCV004573263 RCV004573258 RCV005036982 RCV005637037 RCV003992129 RCV004576463 RCV004576464 RCV004576465 RCV004576467 RCV004576468 RCV004576469 RCV004576470 RCV004576471 RCV004576472 RCV004576473 RCV004576474 RCV004576475 RCV004576476 RCV004576477 RCV004576478 RCV004576479 RCV004576480 RCV004576481 RCV004576482 RCV004576483 RCV004576484 RCV004576485 RCV004576486 RCV004576487 RCV004576488 RCV004576489 RCV004576490 RCV004576491 RCV004576492 RCV004576493 RCV004576494 RCV004576495 RCV004576496 RCV004576497 RCV000454133 RCV001376257 RCV000670181 RCV001542753 RCV005034049 RCV000987723 RCV003470637 RCV001731733 RCV001783006 RCV002506233 RCV001376424 RCV003470636 RCV000625445 RCV000673873 RCV000673010 RCV000664636 RCV000670357 RCV000667905 RCV000674793 RCV000674335 RCV000669507 RCV000674390 RCV000668387 RCV000668210 RCV000674762 RCV002499195 RCV000678567 RCV000678565 RCV000987735 RCV000678562 RCV000678561 RCV000735773 RCV000758198 RCV000758197 RCV000760151 RCV003461017 RCV002249466 RCV002493393 RCV003467306 RCV003465708 RCV000786936 RCV000786866 RCV001830678 RCV001376444 RCV001784398 RCV003461061 RCV001784421 RCV001376318 RCV005036196 RCV001830688 RCV001376457 RCV003467486 RCV000987720 RCV000987721 RCV000987722 RCV000987724 RCV000987725 RCV000987727 RCV000987728 RCV000987729 RCV000987730 RCV000987731 RCV000987733 RCV000987734 RCV001002386 RCV001002721 RCV005036271 RCV002497324 RCV002479196 RCV001836061 RCV001832326 RCV002505535 RCV001029832 RCV001029839 RCV002249659 RCV002249646 RCV003467704 RCV002249666 RCV001593220 RCV003461437 RCV001784611 RCV001593250 RCV005036311 RCV003462571 RCV004570230 RCV002505595 RCV003467718 RCV003462556 RCV001827300 RCV003462531 RCV001376342 RCV003467776 RCV001827385 RCV005036341 RCV003467759 RCV001376419 RCV001833625 RCV001827270 RCV003461438 RCV001833682 RCV005047296 RCV003462627 RCV003469273 RCV003462633 RCV003462634 RCV003462630 RCV003462631 RCV005036384 RCV003462628 RCV003469272 RCV001836116 RCV003469369 RCV001828789 RCV003469376 RCV003145415 RCV003462698 RCV003462720 RCV003469359 RCV003152752 RCV004570461 RCV001833806 RCV001828727 RCV003469406 RCV001833962 RCV003469456 RCV001830049 RCV003469451 RCV001828985 RCV001834035 RCV003460057 RCV005633994 RCV003469479 RCV001262395 RCV003469498 RCV003462844 RCV001376198 RCV002247476
Retinitis punctata albescens	Pathogenic	rs1582930081	RCV001003022

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Blurred vision	Uncertain significance	rs1185686653	RCV000626763
Central areolar choroidal dystrophy	Conflicting classifications of pathogenicity	rs915505702	RCV001199689
Central scotoma	Uncertain significance	rs1185686653	RCV000626763
Cervical cancer	Uncertain significance	rs1241787129	RCV005910973
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs778030177	RCV005901451
Color vision defect	Uncertain significance	rs1554163965	RCV000626799
Horizontal nystagmus	Uncertain significance	rs1554163965	RCV000626799
Optic atrophy	Conflicting classifications of pathogenicity	rs201819948, rs143327210	RCV004816270 RCV004817896
Retinal detachment	Uncertain significance	rs1185686653	RCV000626763
Retinal disorder	Conflicting classifications of pathogenicity	rs199740930	RCV006261969
Retinitis Pigmentosa, Recessive	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs35395170, rs35504565, rs201690244, rs536788112, rs886061663, rs886061676, rs35045551, rs571843718, rs779530881, rs142590049, rs771064426	RCV000300813 RCV000263341 RCV000371200 RCV000365494 RCV000310874 RCV000338467 RCV000407684 RCV000351227 RCV000393031 RCV000361275 RCV000399597 RCV000379596
Rod-cone dystrophy	Uncertain significance	rs1185686653	RCV000626763
Sarcoma	Conflicting classifications of pathogenicity	rs1287889008	RCV005901932
See cases	Benign; Likely benign	rs140506043	RCV002252264
Stargardt disease	Uncertain significance	rs200387978	RCV000787832
Visual impairment	Uncertain significance	rs1554163965, rs1185686653	RCV000626799 RCV000626763

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Astigmatism	Associate	35109811
Blood Coagulation Disorders Inherited	Associate	32218477
Capsule Opacification	Associate	31944634
Carcinoma Renal Cell	Associate	24479813
Cardiotoxicity	Associate	29247589
Cataract	Associate	34689181, 40725401
Color Vision Defects	Associate	31944634
Cone Rod Dystrophies	Associate	20554613, 29550188, 32218477
Diabetes Mellitus Type 2	Associate	36674502
Disease	Associate	34689181, 39970144
Genetic Diseases Inborn	Associate	32218477
Immunoglobulin G4 Related Disease	Associate	34689181
Intervertebral disc disease	Associate	31359629
Leber Congenital Amaurosis	Associate	24265693, 31253780, 32218477, 33879469, 36140798
Leukemia Large Granular Lymphocytic	Associate	35015834
Macular Degeneration	Associate	38417719
Macular Edema	Associate	37648803
Muscular Diseases	Associate	21826682
Myotoxicity	Associate	27539103
Night Blindness	Associate	31944634, 36140798
Refsum Disease Infantile	Associate	30718709, 32728228, 36811936
Retinal Degeneration	Associate	33507217, 36764454
Retinal Diseases	Associate	20375346, 24265693, 25491159, 32218477, 32423767, 33691693, 33946315, 36513702, 36524988
Retinal Dystrophies	Associate	23591405, 27874104, 29068140, 36140798
Retinitis Pigmentosa	Associate	18510646, 20375346, 20696082, 21179430, 21519034, 22363543, 25268133, 25491159, 25753737, 26787102, 26806561, 27375351, 27564720, 27658286, 28763560 View all (36 more)
Retinitis Pigmentosa 25	Associate	39742628
Retinopathy Pericentral Pigmentary Autosomal Recessive	Associate	35816039
Stomach Neoplasms	Associate	36970058
Vision Disorders	Associate	31944634

EYS (eyes shut homolog)