CRB1 (crumbs cell polarity complex component 1)

Gene

• Entrez ID: 23418
• Gene name: Crumbs cell polarity complex component 1
• Gene symbol: CRB1
• Synonyms (NCBI Gene): CRB1-A, CRB1-B, CRB1-C, LCA8, RP12
• Chromosome: 1
• Chromosome location: 1q31.3
• Summary: This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaf

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939720	C>A,G,T	Pathogenic, not-provided	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs35193230	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant, non coding transcript variant
rs62635649	T>A,G	Not-provided, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62635654	C>G,T	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62635655	G>A,C,T	Pathogenic, not-provided	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs62635656	T>C	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62635659	T>C,G	Not-provided, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62636260	->TG	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant
rs62636264	T>C	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs62636267	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62636270	GCTG>-	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs62636271	T>C	Not-provided, pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62636273	T>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained, intron variant, non coding transcript variant
rs62636275	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62636283	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs62636291	T>A,C	Pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62645747	T>A,C	Not-provided, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62645748	G>A	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs62645749	T>C	Likely-benign, likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs62645752	ATAGGAA>-	Not-provided, likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs62645754	G>A,C	Not-provided, pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs114342808	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs114630940	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs115352681	C>A,T	Likely-pathogenic, pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs116471343	C>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs137853136	G>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant
rs137853137	A>T	Pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs137853138	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant
rs142857810	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs143511261	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained, non coding transcript variant
rs144436610	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs145141811	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, non coding transcript variant, missense variant
rs145282040	A>G,T	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs150412614	C>A,G,T	Pathogenic, likely-benign	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, intron variant, stop gained
rs267598278	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs281865175	CAACTCAGGG>-	Pathogenic, not-provided	3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs369775002	G>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs398124615	AATTGATGG>-,AATTGATGGAATTGATGG	Pathogenic, likely-pathogenic, likely-benign	Genic upstream transcript variant, non coding transcript variant, inframe insertion, coding sequence variant, 5 prime UTR variant, inframe deletion
rs564754426	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained, missense variant
rs574162883	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs587783015	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs745348555	GGTGGAT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs745422941	A>-	Pathogenic	Frameshift variant, non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant
rs752212470	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs757740068	G>A,T	Pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant, missense variant
rs759662695	C>A	Pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant
rs760544654	C>G,T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs763324776	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant
rs764256655	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs768905244	G>A,T	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs773233587	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs776591659	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs776788104	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs778627080	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs781705903	A>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs786205450	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs786205610	CAAACTC>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs794727980	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs863223341	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs863223342	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs863224862	G>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs878853364	->CTTA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs878853366	->A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant, non coding transcript variant
rs878853369	G>T	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs878853370	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs878853371	C>T	Likely-pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant
rs886039871	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886043587	GC>A	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs890453675	G>A	Pathogenic	Splice donor variant, intron variant, non coding transcript variant
rs910489135	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1057520152	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs1085307972	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs1201356843	C>A,T	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs1237424465	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs1266363944	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1271816211	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1355198242	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1450635782	G>A	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs1553249226	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1553260321	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1553260517	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553261468	->C	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1553263218	->G	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1558057153	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs1558127317	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1571523319	->ACTT	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1571523755	C>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs1571524102	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1571524269	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1571525145	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1571525390	T>G	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1571540037	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1571540258	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1571544281	AACCC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1571544334	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1571557864	TG>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained, inframe indel
rs1571572235	TGTGTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant, intron variant, non coding transcript variant
rs1571848166	TT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1571848659	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1571848688	AGAT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1571848744	G>A	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1571848855	G>T	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1571878277	G>A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1571897130	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022890	hsa-miR-124-3p	Microarray	18668037
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456383	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT456382	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT456381	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT456380	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT456379	hsa-miR-4477b	PAR-CLIP	23592263
MIRT456378	hsa-miR-7856-5p	PAR-CLIP	23592263
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456384	hsa-miR-561-3p	PAR-CLIP	23592263
MIRT456383	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT456382	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT456381	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT456380	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT456379	hsa-miR-4477b	PAR-CLIP	23592263
MIRT456378	hsa-miR-7856-5p	PAR-CLIP	23592263
MIRT908156	hsa-miR-181a	CLIP-seq
MIRT908157	hsa-miR-181b	CLIP-seq
MIRT908158	hsa-miR-181c	CLIP-seq
MIRT908159	hsa-miR-181d	CLIP-seq
MIRT908160	hsa-miR-23a	CLIP-seq
MIRT908161	hsa-miR-23b	CLIP-seq
MIRT908162	hsa-miR-23c	CLIP-seq
MIRT908163	hsa-miR-4262	CLIP-seq
MIRT908164	hsa-miR-561	CLIP-seq
MIRT1969221	hsa-miR-486-5p	CLIP-seq
MIRT2205202	hsa-miR-3074-5p	CLIP-seq
MIRT2205203	hsa-miR-3143	CLIP-seq
MIRT2205204	hsa-miR-3678-3p	CLIP-seq
MIRT2205205	hsa-miR-4423-5p	CLIP-seq
MIRT2205206	hsa-miR-4659a-5p	CLIP-seq
MIRT2205207	hsa-miR-4659b-5p	CLIP-seq
MIRT2205208	hsa-miR-4703-3p	CLIP-seq
MIRT2205209	hsa-miR-4716-5p	CLIP-seq
MIRT2205210	hsa-miR-4776-3p	CLIP-seq
MIRT1969221	hsa-miR-486-5p	CLIP-seq
MIRT2205211	hsa-miR-543	CLIP-seq
MIRT2205212	hsa-miR-587	CLIP-seq
MIRT2205205	hsa-miR-4423-5p	CLIP-seq
MIRT2205206	hsa-miR-4659a-5p	CLIP-seq
MIRT2205207	hsa-miR-4659b-5p	CLIP-seq
MIRT2205210	hsa-miR-4776-3p	CLIP-seq
MIRT2205205	hsa-miR-4423-5p	CLIP-seq
MIRT2205206	hsa-miR-4659a-5p	CLIP-seq
MIRT2205207	hsa-miR-4659b-5p	CLIP-seq
MIRT2205210	hsa-miR-4776-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11927608, 15914641, 17920587, 33758649
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IDA	15914641
GO:0005912	Component	Adherens junction	IEA
GO:0007009	Process	Plasma membrane organization	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	TAS	10508521
GO:0007267	Process	Cell-cell signaling	TAS	10508521
GO:0007601	Process	Visual perception	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010842	Process	Retina layer formation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	NAS	28424578
GO:0023052	Process	Signaling	IEA
GO:0032991	Component	Protein-containing complex	IBA
GO:0032991	Component	Protein-containing complex	IDA	15914641
GO:0032991	Component	Protein-containing complex	IEA
GO:0035003	Component	Subapical complex	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043296	Component	Apical junction complex	IEA
GO:0043296	Component	Apical junction complex	NAS	28424578
GO:0045177	Component	Apical part of cell	IEA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	NAS	28424578
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0060060	Process	Post-embryonic retina morphogenesis in camera-type eye	IEA
GO:0061024	Process	Membrane organization	IEA
GO:0061159	Process	Establishment of bipolar cell polarity involved in cell morphogenesis	IEA
GO:0071482	Process	Cellular response to light stimulus	IEA
GO:0097386	Component	Glial cell projection	IEA

Other IDs

• MIM: 604210
• HGNC: 2343
• e!Ensembl: ENSG00000134376

Protein

• UniProt ID: P82279
• Protein name: Protein crumbs homolog 1
• Protein function: Plays a role in photoreceptor morphogenesis in the retina (By similarity). May maintain cell polarization and adhesion (By similarity).
• PDB: 4UU5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00008	EGF	74 → 105	EGF-like domain	Domain
  PF12661	hEGF	119 → 140	Human growth factor-like EGF	Domain
  PF00008	EGF	152 → 182	EGF-like domain	Domain
  PF00008	EGF	190 → 220	EGF-like domain	Domain
  PF12661	hEGF	233 → 254	Human growth factor-like EGF	Domain
  PF00008	EGF	266 → 297	EGF-like domain	Domain
  PF00008	EGF	305 → 335	EGF-like domain	Domain
  PF00008	EGF	343 → 393	EGF-like domain	Domain
  PF00008	EGF	401 → 434	EGF-like domain	Domain
  PF00008	EGF	445 → 479	EGF-like domain	Domain
  PF02210	Laminin_G_2	514 → 651	Laminin G domain	Domain
  PF00008	EGF	676 → 706	EGF-like domain	Domain
  PF02210	Laminin_G_2	743 → 860	Laminin G domain	Domain
  PF00008	EGF	891 → 920	EGF-like domain	Domain
  PF02210	Laminin_G_2	980 → 1105	Laminin G domain	Domain
  PF00008	EGF	1143 → 1173	EGF-like domain	Domain
  PF00008	EGF	1181 → 1210	EGF-like domain	Domain
  PF12661	hEGF	1223 → 1240	Human growth factor-like EGF	Domain
  PF00008	EGF	1301 → 1331	EGF-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye (PubMed:15914641). Expressed at the outer limiting membrane and apical to adherens junctions in the retina (PubMed:15914641). {ECO:0000269|Pu
• Sequence:

  MALKNINYLLIFYLSFSLLIYIKNSFCNKNNTRCLSNSCQNNSTCKDFSKDNDCSCSDTA
  NNLDKDCDNMKDPCFSNPCQGSATCVNTPGERSFLCKCPPGYSGTICETTIGSCGKNSCQ
  HGGICHQDPIYPVCICPAGYAGRFCEIDHDECASSPCQNGAVCQDGIDGYSCFCVPGYQG
  RHCDLEVDECASDPCKNEATCLNEIGRYTCICPHNYSGVNCELEIDECWSQPCLNGATCQ
  DALGAYFCDCAPGFLGDHCELNTDECASQPCLHGGLCVDGENRYSCNCTGSGFTGTHCET
  LMPLCWSKPCHNNATCEDSVDNYTCHCWPGYTGAQCEIDLNECNSNPCQSNGECVELSSE
  KQYGRITGLPSSFSYHEASGYVCICQPGFTGIHCEEDVNECSSNPCQNGGTCENLPGNYT
  CHCPFDNLSRTFYGGRDCSDILLGCTHQQCLNNGTCIPHFQDGQHGFSCLCPSGYTGSLC
  EIATTLSFEGDGFLWVKSGSVTTKGSVCNIALRFQTVQPMALLLFRSNRDVFVKLELLSG
  YIHLSIQVNNQSKVLLFISHNTSDGEWHFVEVIFAEAVTLTLIDDSCKEKCIAKAPTPLE
  SDQSICAFQNSFLGGLPVGMTSNGVALLNFYNMPSTPSFVGCLQDIKIDWNHITLENISS
  GSSLNVKAGCVRKDWCESQPCQSRGRCINLWLSYQCDCHRPYEGPNCLREYVAGRFGQDD
  STGYVIFTLDESYGDTISLSMFVRTLQPSGLLLALENSTYQYIRVWLERGRLAMLTPNSP
  KLVVKFVLNDGNVHLISLKIKPYKIELYQSSQNLGFISASTWKIEKGDVIYIGGLPDKQE
  TELNGGFFKGCIQDVRLNNQNLEFFPNPTNNASLNPVLVNVTQGCAGDNSCKSNPCHNGG
  VCHSRWDDFSCSCPALTSGKACEEVQWCGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQ
  ILFRSNGNITRELTNITFGFRTRDANVIILHAEKEPEFLNISIQDSRLFFQLQSGNSFYM
  LSLTSLQSVNDGTWHEVTLSMTDPLSQTSRWQMEVDNETPFVTSTIATGSLNFLKDNTDI
  YVGDRAIDNIKGLQGCLSTIEIGGIYLSYFENVHGFINKPQEEQFLKISTNSVVTGCLQL
  NVCNSNPCLHGGNCEDIYSSYHCSCPLGWSGKHCELNIDECFSNPCIHGNCSDRVAAYHC
  TCEPGYTGVNCEVDIDNCQSHQCANGATCISHTNGYSCLCFGNFTGKFCRQSRLPSTVCG
  NEKTNLTCYNGGNCTEFQTELKCMCRPGFTGEWCEKDIDECASDPCVNGGLCQDLLNKFQ
  CLCDVAFAGERCEVDLADDLISDIFTTIGSVTVALLLILLLAIVASVVTSNKRATQGTYS
  PSRQEKEGSRVEMWNLMPPPAMERLI

• Sequence length: 1406

Pathways

KEGG:

Hippo signaling pathway

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	Likely pathogenic	rs2125304648	RCV001814385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa	Pathogenic; Likely pathogenic	rs786205450, rs786205610, rs28939720, rs866822473, rs1664325377, rs1460946384, rs1664348016, rs1664767158, rs1665099725	RCV001257859 RCV001257865 RCV001257864 RCV001257860 RCV001257862 RCV001257858 RCV001257868 RCV001257863 RCV001257866 RCV001257867	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone dystrophy	Pathogenic	rs62645748	RCV003324500	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs754575460, rs62635654	RCV001725800 RCV005417417	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRB1-related disorder	Likely pathogenic; Pathogenic	rs1031415706, rs62635656, rs62635654, rs137853137, rs2528108972, rs1301895052, rs2528205083, rs116471343, rs62645747, rs757740068, rs62645748, rs1167867158, rs765676754, rs1366609497	RCV004740672 RCV004528086 RCV004540990 RCV004739293 RCV004528562 RCV004741503 RCV004539124 RCV004739713 RCV004740266 RCV005869531 RCV003313928 RCV004740561 RCV004740562 RCV004726877	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRB1-related maculopathy	Likely pathogenic; Pathogenic	rs1664656299, rs62635654	RCV001352964 RCV001352991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-onset retinal dystrophy	Pathogenic; Likely pathogenic	rs62636275, rs150412614, rs759662695	RCV000786009 RCV000786007 RCV000786008	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary macular dystrophy	Likely pathogenic; Pathogenic	rs116471343, rs62645748	RCV005355703 RCV005357245	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs1665279918, rs1383691293, rs746597173, rs62645754, rs62636264, rs62636266, rs62636271, rs62636273, rs62645752, rs769909288, rs114342808, rs2528199038, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs767648174, rs2528204450, rs2527646571, rs2528202094, rs1057520152, rs62636260, rs1085307972, rs62645747, rs369775002, rs145282040, rs1553261468, rs773914330, rs757740068, rs1553260321, rs62645748, rs745422941, rs150412614, rs1571848744, rs1571544281, rs890453675, rs772794324, rs114630940, rs778731851, rs369184026, rs1654722914, rs1665282478, rs763111500, rs878853368, rs1667264651	RCV005614520 RCV001831365 RCV005614530 RCV001002989 RCV001826777 RCV001831900 RCV001002996 RCV001275654 RCV000787584 RCV001831405 RCV001002990 RCV005616425 RCV001826422 RCV001275651 RCV005614367 RCV001002998 RCV001003001 RCV001833240 RCV003324693 RCV005616649 RCV005616650 RCV001275660 RCV001833607 RCV001834593 RCV000515691 RCV000505025 RCV001275649 RCV000505054 RCV005418175 RCV001275659 RCV001275647 RCV001275657 RCV005614442 RCV001002994 RCV001002988 RCV001002997 RCV001003000 RCV001199672 RCV001199674 RCV001832444 RCV001832464 RCV005418988 RCV005614493 RCV001833768 RCV001828805 RCV005614504	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 1	Pathogenic; Likely pathogenic	rs62645752, rs116471343, rs62645747, rs1571848166, rs1571848855, rs1571878277, rs1571523319, rs1571525145, rs745348555, rs1571557864, rs1450635782, rs62635649	RCV000986484 RCV000986491 RCV000986493 RCV000986479 RCV000986482 RCV000986486 RCV000986488 RCV000986490 RCV000986492 RCV000986495 RCV000986496 RCV000986497	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 8	Likely pathogenic; Pathogenic	rs1664649489, rs1664775504, rs1665279918, rs1664303657, rs1031415706, rs1571544334, rs2125498956, rs2125193922, rs2125500431, rs2125513602, rs1383691293, rs1658700284, rs988534225, rs2125468772, rs2125468776, rs746597173, rs62636265, rs757279881, rs1180527322, rs2125472205, rs772476137, rs767368951, rs752804194, rs62645750, rs62645754, rs62645746, rs62636264, rs62636266, rs62645755, rs62636267, rs62635653, rs62636269, rs62636270, rs62636271, rs62636273, rs281865173, rs62636274, rs62635659, rs62636276, rs62636277, rs62636278, rs281865174, rs62635649, rs62645752, rs760287363, rs2125328350, rs2125328456, rs2125333406, rs2125354507, rs768107603, rs2125470583, rs751935649, rs769909288, rs2125471663, rs2125488868, rs2125489019, rs2125489182, rs1290879180, rs2125499552, rs2125500127, rs2125506442, rs765536137, rs1246546027, rs890453675, rs2125485368, rs2125513549, rs1275965097, rs2125303994, rs2125354244, rs1237424465, rs2125303672, rs2125193925, rs754575460, rs778232235, rs751303205, rs758723407, rs2125303667, rs766989894, rs2125500799, rs2125506218, rs1664313783, rs771079655, rs2125303600, rs1277758473, rs2125499463, rs2125472041, rs1206810310, rs2125485135, rs1658671768, rs757137398, rs1664671663, rs1664290387, rs2125574236, rs779069205, rs2125328494, rs1490587812, rs778419716, rs2125500230, rs2125483920, rs2125483925, rs2125354456, rs2125470125, rs2125471347, rs533997742, rs2125471098, rs2125328217, rs1658692554, rs2125514028, rs2125483574, rs1409490389, rs2125328634, rs1659645978, rs1665120314, rs2125469313, rs2125485467, rs2125489334, rs2125500491, rs2125304900, rs748927280, rs2125501295, rs539189291, rs1372774777, rs587783015, rs189395222, rs2125471177, rs2125500141, rs1342970033, rs2125484499, rs2125574108, rs1046799192, rs2125485040, rs2125506459, rs114342808, rs2528106913, rs786205450, rs1664329331, rs2528196636, rs2465025258, rs2528114733, rs1254393801, rs1665070172, rs2528202588, rs2528204865, rs1391910861, rs748175297, rs2528199038, rs2528104500, rs2528146906, rs1481850123, rs756544059, rs2528147327, rs2528195914, rs2528243703, rs2528165311, rs2527717111, rs2528148484, rs2465032554, rs2528198937, rs181410446, rs2528148933, rs2528148331, rs62635656, rs62635654, rs28939720, rs137853136, rs137853137, rs62636275, rs2528104857, rs281865175, rs2527647145, rs2465024880, rs2527647307, rs2528205271, rs1571572316, rs62645747, rs2528114749, rs863224862, rs2528198657, rs2465029967, rs2465027395, rs2465025960, rs749746650, rs2528111983, rs2528200659, rs1664277152, rs2528147634, rs2528149815, rs2528151865, rs2528203102, rs2527715389, rs1359621977, rs777323179, rs2125483466, rs2527625515, rs878853364, rs767648174, rs878853371, rs878853367, rs764256655, rs886039871, rs115352681, rs886043587, rs2528108972, rs2528114846, rs752824817, rs2527646571, rs762147334, rs2527715988, rs2465025318, rs2528105974, rs1301895052, rs2528202094, rs1389085632, rs746787047, rs2528165070, rs2528166190, rs1658697788, rs2527625216, rs2528204917, rs2528201250, rs2465030583, rs190037839, rs2528109129, rs2528112763, rs2527646389, rs2528196899, rs62636286, rs1664686689, rs2528244275, rs772032607, rs1664767468, rs2528204409, rs2528152423, rs2528167027, rs2528103992, rs2528222910, rs2528108747, rs2527715135, rs2528148223, rs186077696, rs2527625308, rs2528104465, rs2465023834, rs2528196780, rs1664642051, rs1658690599, rs149216103, rs1208370356, rs2527715700, rs2528150148, rs2528152663, rs2528196742, rs2528205083, rs2465030529, rs2528204854, rs772819260, rs1256037063, rs762223255, rs2465033087, rs1571897130, rs2528243560, rs2528197857, rs2465028490, rs1667269806, rs776591659, rs2528200607, rs2464580469, rs2528197381, rs2465032365, rs2528222834, rs2528221941, rs2528196951, rs2528148995, rs2528110973, rs2125485227, rs2528196103, rs1665099725, rs2528244159, rs2528152112, rs760419335, rs758017817, rs576795665, rs2528201160, rs2528150542, rs755489411, rs2527647377, rs2465032420, rs2465029830, rs2527645980, rs2528104627, rs2528221827, rs2528167163, rs116471343, rs1057520152, rs62636260, rs1085307972, rs369775002, rs145282040, rs773914330, rs1553263218, rs757740068, rs1553260321, rs62645748, rs564754426, rs1558057153, rs1558127317, rs745422941, rs778627080, rs150412614, rs759662695, rs781705903, rs1571848688, rs1571540037, rs143511261, rs763324776, rs1571878277, rs745348555, rs1571557864, rs1450635782, rs1571848744, rs768905244, rs1571540258, rs62635048, rs1658684590, rs1658688864, rs778731851, rs1660503192, rs1660516364, rs1664289410, rs1664317534, rs369184026, rs1665086143, rs768713412, rs1665487563, rs267598278, rs1654723466, rs1167867158, rs1660515780, rs866822473, rs963201816, rs1664325377, rs766411096, rs1558138741, rs760544654, rs1654722914, rs1665282720, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1665282478, rs1658673791, rs763111500, rs1664341626, rs1665063400, rs1664292210, rs1664650245, rs1558132353, rs1665482895, rs1658689096, rs762835866, rs1665066272, rs878853368, rs780580887, rs1659642763, rs753224594, rs1659844562, rs1660507732, rs1660517312, rs371114178, rs1664343244, rs1664649015, rs1664651786, rs1664669402, rs1664680011, rs1664683759, rs1249210332, rs1665071224, rs1665084413, rs1665093194, rs1665100553, rs1665112963, rs1665280076, rs1665489039, rs1667260204, rs1667260968, rs1667264651, rs1667270187, rs1665488161, rs1460946384, rs1664348016	RCV001327036 RCV001316680 RCV001323343 RCV001343048 RCV001350386 RCV001352987 RCV001359699 RCV003771220 RCV001380409 RCV002550238 RCV001379038 RCV001377781 RCV001378415 RCV001377494 RCV001379001 RCV001379460 RCV001378739 RCV001377887 RCV001377318 RCV001379356 RCV001378912 RCV001378741 RCV001376938 RCV001854502 RCV002498468 RCV003474690 RCV000797320 RCV001046839 RCV001250598 RCV001250657 RCV001854503 RCV001250636 RCV001004993 RCV000529725 RCV000542027 RCV001250610 RCV001250614 RCV001857424 RCV001378740 RCV001250629 RCV002514530 RCV001250652 RCV001857425 RCV001250646 RCV001047855 RCV001380026 RCV001387134 RCV001389589 RCV001388292 RCV001381325 RCV001386224 RCV001387606 RCV001388311 RCV001390796 RCV001381291 RCV001382300 RCV001382442 RCV001385188 RCV001380183 RCV001383015 RCV001388639 RCV001384351 RCV001386035 RCV001384585 RCV001387814 RCV001390944 RCV001526716 RCV001526717 RCV005005960 RCV001580680 RCV001580685 RCV001580687 RCV002538607 RCV003451849 RCV002539755 RCV001861045 RCV001885124 RCV001787307 RCV001808917 RCV002028701 RCV001926051 RCV001884818 RCV001924961 RCV001881511 RCV001928503 RCV001969116 RCV001904204 RCV001978979 RCV001941693 RCV001941821 RCV001936758 RCV001908346 RCV001995245 RCV001973133 RCV001995121 RCV002045743 RCV002031648 RCV001955988 RCV001975783 RCV001985485 RCV001954471 RCV001977555 RCV001940368 RCV001943707 RCV002022710 RCV001914281 RCV001971616 RCV001901218 RCV002000171 RCV001912801 RCV001994673 RCV001946533 RCV002035427 RCV001900241 RCV001942102 RCV002002933 RCV001929407 RCV002002484 RCV002041452 RCV001951032 RCV002037978 RCV002020594 RCV001991452 RCV001963012 RCV001942337 RCV001956079 RCV001956081 RCV001961694 RCV001953514 RCV001927726 RCV001944050 RCV001918230 RCV001960197 RCV001942524 RCV001907778 RCV002011871 RCV001986193 RCV000132698 RCV000144466 RCV002464047 RCV003765070 RCV002623262 RCV002592076 RCV002651390 RCV002651391 RCV002664199 RCV002651386 RCV002664200 RCV002634327 RCV002651388 RCV002651389 RCV003475520 RCV002633018 RCV002594786 RCV002590540 RCV002614679 RCV002666910 RCV002671469 RCV002643511 RCV002690589 RCV002686099 RCV002740100 RCV002790651 RCV002776168 RCV002828472 RCV002833449 RCV002833622 RCV002829419 RCV002839242 RCV001045972 RCV001052374 RCV000809110 RCV000006088 RCV000006089 RCV000691427 RCV000006093 RCV002858692 RCV000006096 RCV002880916 RCV002853215 RCV002868055 RCV002947661 RCV002942001 RCV002943326 RCV002949588 RCV001580469 RCV003009549 RCV003010297 RCV003016957 RCV003018004 RCV003018726 RCV003023276 RCV003031501 RCV003026335 RCV003019484 RCV003041940 RCV003057918 RCV003030352 RCV003051851 RCV004572674 RCV003319533 RCV003050338 RCV003040565 RCV003061908 RCV001390795 RCV001069480 RCV001854803 RCV002519764 RCV003475547 RCV001040337 RCV000256380 RCV001202291 RCV001245164 RCV003778244 RCV003475743 RCV003475747 RCV003475748 RCV003475749 RCV003475750 RCV003475751 RCV003475752 RCV003475753 RCV003475754 RCV003475755 RCV003475756 RCV003475758 RCV003475759 RCV003475760 RCV003475761 RCV003475762 RCV003475763 RCV003475764 RCV003475765 RCV003475766 RCV003475767 RCV003475768 RCV003475770 RCV003475772 RCV003475773 RCV003475774 RCV003475776 RCV003475777 RCV003475778 RCV003475780 RCV003475781 RCV003475782 RCV003475783 RCV003475784 RCV003475785 RCV003475786 RCV003475787 RCV003475788 RCV003475789 RCV003475790 RCV003475791 RCV003455894 RCV003784549 RCV003797797 RCV003798070 RCV003782856 RCV003782949 RCV003780954 RCV003780956 RCV003780958 RCV003780959 RCV003780960 RCV003780962 RCV003781154 RCV003779473 RCV003787130 RCV003789290 RCV003792849 RCV003790162 RCV003787852 RCV003784984 RCV003806234 RCV003808686 RCV003805421 RCV003803957 RCV003800612 RCV003803136 RCV003801097 RCV003795245 RCV003800277 RCV003817820 RCV003809460 RCV003801703 RCV003809826 RCV003815417 RCV003815433 RCV003813331 RCV003807353 RCV003812600 RCV003812639 RCV003812860 RCV003813016 RCV003802494 RCV003810306 RCV004573485 RCV004575695 RCV004575696 RCV004575697 RCV004575698 RCV004575699 RCV004575700 RCV004575701 RCV004575702 RCV004575703 RCV004575704 RCV004575705 RCV004575706 RCV001064315 RCV001048729 RCV001856828 RCV003449263 RCV001250609 RCV001390794 RCV001053730 RCV001250645 RCV001865636 RCV001064730 RCV001057046 RCV000032814 RCV001040018 RCV000684930 RCV000754593 RCV000754592 RCV000754594 RCV000754591 RCV001250592 RCV001869175 RCV001250630 RCV001869189 RCV000820670 RCV000801518 RCV000817389 RCV000816727 RCV001858643 RCV001042752 RCV001250618 RCV001858644 RCV002489456 RCV001377780 RCV001860526 RCV001250627 RCV001250622 RCV001062456 RCV001055799 RCV001047854 RCV001047221 RCV001042872 RCV001052034 RCV001068280 RCV001047466 RCV001044718 RCV001049924 RCV001058927 RCV001049160 RCV001044149 RCV001065861 RCV001854256 RCV001045412 RCV001250582 RCV003455394 RCV003455314 RCV001205896 RCV003455403 RCV003455418 RCV003473703 RCV002554698 RCV003455381 RCV001862600 RCV001378742 RCV001862586 RCV001862575 RCV003768991 RCV001250580 RCV001386064 RCV001380407 RCV001862707 RCV001859201 RCV001204868 RCV001201454 RCV001208214 RCV001203809 RCV001203808 RCV001228468 RCV001225983 RCV001230756 RCV001230470 RCV001244716 RCV001243685 RCV001246724 RCV001226168 RCV001587287 RCV001250656 RCV001250634 RCV001250635 RCV001250642 RCV001250649 RCV001250594 RCV001250655 RCV001250597 RCV001250599 RCV001250643 RCV001250603 RCV001250650 RCV001250640 RCV001250607 RCV001250644 RCV001250613 RCV001250647 RCV001250653 RCV001250637 RCV001250648 RCV001250654 RCV001250631 RCV001250651 RCV001250633 RCV001250632 RCV001250623 RCV001250625 RCV001250641 RCV001250638 RCV001250621 RCV003473841 RCV001332031 RCV001305823	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy	Pathogenic; Likely pathogenic	rs62636273, rs62635654, rs764256655, rs1553260321, rs1201356843	RCV000505142 RCV000656137 RCV000656138 RCV000656136 RCV000656135	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pigmented paravenous retinochoroidal atrophy	Likely pathogenic; Pathogenic	rs1031415706, rs2125500431, rs2125513602, rs62645754, rs62636264, rs62636273, rs62635659, rs62636276, rs62645752, rs768107603, rs751935649, rs769909288, rs752804194, rs1275965097, rs751303205, rs1664313783, rs1658671768, rs757137398, rs1409490389, rs2125500491, rs2125304900, rs1372774777, rs1342970033, rs2125506459, rs114342808, rs62635656, rs62635654, rs28939720, rs137853137, rs62636275, rs767648174, rs878853367, rs764256655, rs1664642051, rs2125483466, rs757279881, rs116471343, rs1057520152, rs62645747, rs145282040, rs773914330, rs757740068, rs1553260321, rs62645748, rs150412614, rs1571848688, rs1571540037, rs143511261, rs763324776, rs1571557864, rs62635649, rs890453675, rs1658688864, rs369184026, rs1667269806, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1450635782, rs760544654, rs760287363, rs1343680080, rs765676754, rs1659643864, rs1664767982, rs1665282478, rs763111500, rs780580887, rs1667264651	RCV005005862 RCV005005899 RCV005005900 RCV002498468 RCV003453013 RCV003453019 RCV002247492 RCV003453029 RCV002490751 RCV005005919 RCV003450083 RCV003451695 RCV002499822 RCV005005960 RCV001771820 RCV005006151 RCV005006278 RCV005006160 RCV005006308 RCV005008299 RCV002246640 RCV005008297 RCV005006258 RCV002492273 RCV005008044 RCV003450614 RCV002496279 RCV001196030 RCV002490326 RCV002504753 RCV003450617 RCV003454682 RCV005008179 RCV002500956 RCV005013189 RCV005013187 RCV005006434 RCV003137989 RCV003449044 RCV001836643 RCV005010445 RCV005010447 RCV003449440 RCV003449467 RCV000762874 RCV005012306 RCV005012372 RCV005012331 RCV005012366 RCV005012364 RCV003455004 RCV002489456 RCV005012435 RCV005012478 RCV003455213 RCV005012522 RCV002497490 RCV003455395 RCV003455315 RCV003455401 RCV003455404 RCV003455419 RCV003455345 RCV003455382 RCV003455407 RCV003455326 RCV003446611 RCV005012546 RCV005012548 RCV001198728 RCV001198222 RCV001198223 RCV003449640 RCV005012692 RCV002246235	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs1571848744, rs369184026	RCV006254177 RCV006254192	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs1658700284, rs746597173, rs1180527322, rs62645754, rs62636264, rs62636266, rs62636271, rs62636273, rs62636276, rs281865174, rs62645752, rs2125304648, rs2125468954, rs2125328634, rs2125500491, rs2125304900, rs539189291, rs114342808, rs748175297, rs2465032554, rs62635656, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs878853366, rs878853364, rs767648174, rs878853371, rs878853367, rs878853369, rs764256655, rs1664298414, rs2528244275, rs2528222834, rs760419335, rs2465024035, rs1658652635, rs2528104297, rs2125470527, rs1664662355, rs1336253157, rs757279881, rs116471343, rs1057520152, rs62645747, rs369775002, rs145282040, rs773914330, rs1553263218, rs62645748, rs150412614, rs781705903, rs1450635782, rs1571848744, rs1571540258, rs890453675, rs369184026, rs768713412, rs267598278, rs1658656722, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664643556, rs766411096, rs1664671663, rs1426006136, rs1558138741, rs1665100409, rs1665102146, rs760544654, rs1654722914, rs760287363, rs1664686689, rs1665282720, rs765676754, rs1366609497, rs763111500, rs62636274, rs1667264651, rs1460946384, rs1664775193	RCV003888077 RCV005432698 RCV004699350 RCV004815175 RCV003235040 RCV004815176 RCV004815177 RCV001074017 RCV001075774 RCV004794361 RCV001073493 RCV004782756 RCV001591929 RCV004815701 RCV004690198 RCV004816874 RCV004794566 RCV001073589 RCV006262647 RCV004817124 RCV001075294 RCV001074882 RCV001074789 RCV000787826 RCV004814842 RCV001073404 RCV000225488 RCV000225570 RCV000225453 RCV000225597 RCV000225544 RCV000225605 RCV001075823 RCV004794635 RCV004818355 RCV004818356 RCV004818416 RCV004794660 RCV003889668 RCV003889674 RCV003889722 RCV003889747 RCV003889796 RCV003889808 RCV004579629 RCV001073689 RCV001074124 RCV003987563 RCV001074835 RCV000504865 RCV000504958 RCV000504784 RCV000505155 RCV001075564 RCV004818003 RCV005912136 RCV001074569 RCV004818139 RCV004818140 RCV001073588 RCV004813609 RCV000505040 RCV001075846 RCV001074317 RCV001075076 RCV001073402 RCV001075147 RCV001075152 RCV001075721 RCV001075772 RCV001074301 RCV001074122 RCV001075831 RCV001074865 RCV001074584 RCV001075360 RCV001075199 RCV001073526 RCV001074952 RCV001074781 RCV001075834 RCV001073626 RCV004813747 RCV004813748 RCV003230647 RCV003331092 RCV004800755 RCV006266672 RCV004814047 RCV004814051	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs62636273, rs62645752, rs2125193925, rs863223342, rs62635654, rs28939720, rs137853137, rs115352681, rs776788104, rs1553260517, rs757740068, rs62645748, rs781705903, rs1571572235, rs1571523755, rs1571525390, rs1571848659, rs1571524269, rs768905244, rs1571540258, rs760544654, rs1659645978, rs1659651471, rs1660519681, rs1664301074, rs771257822, rs866822473, rs1654721399, rs1659642467, rs780580887, rs1664306632	RCV001723672 RCV000787583 RCV001698682 RCV000201458 RCV000787577 RCV000787576 RCV000787578 RCV000787574 RCV000504659 RCV000504745 RCV000504976 RCV000787579 RCV000787580 RCV000787581 RCV000787824 RCV000787827 RCV001002987 RCV001002991 RCV001002993 RCV001002995 RCV001002999 RCV001199677 RCV001199678 RCV001199679 RCV001199474 RCV001199676 RCV001724243 RCV001696228 RCV001249876 RCV001249873 RCV001249875 RCV001249877	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 12	Likely pathogenic; Pathogenic	rs1664649489, rs1664775504, rs1665279918, rs1664303657, rs1031415706, rs2125498956, rs2125193922, rs767359805, rs2125500431, rs2125513602, rs1383691293, rs1658700284, rs988534225, rs2125468772, rs2125468776, rs746597173, rs62636265, rs757279881, rs1180527322, rs2125472205, rs772476137, rs767368951, rs752804194, rs62645750, rs62645754, rs62645746, rs62636264, rs62636266, rs62645755, rs62636267, rs62635653, rs62636271, rs62636273, rs62635659, rs62636276, rs62636277, rs281865174, rs62635651, rs62645752, rs760287363, rs2125328350, rs2125328456, rs2125333406, rs2125354507, rs768107603, rs2125470583, rs751935649, rs769909288, rs2125471663, rs2125488868, rs2125489019, rs2125489182, rs1290879180, rs2125499552, rs2125500127, rs2125506442, rs765536137, rs1246546027, rs890453675, rs1275965097, rs2125303994, rs2125354244, rs1237424465, rs62635652, rs2125488757, rs2125303672, rs2125193925, rs754575460, rs778232235, rs751303205, rs2125499361, rs2125470141, rs766989894, rs2125500799, rs2125506218, rs1664313783, rs771079655, rs2125303600, rs1277758473, rs2125499463, rs2125472041, rs1206810310, rs2125485135, rs1658671768, rs757137398, rs1664671663, rs1664290387, rs2125574236, rs779069205, rs2125328494, rs1490587812, rs778419716, rs2125500230, rs2125483920, rs2125483925, rs2125354456, rs2125470125, rs2125471347, rs533997742, rs2125471098, rs2125328217, rs1658692554, rs2125514028, rs2125483574, rs1409490389, rs2125328634, rs1659645978, rs1665120314, rs2125469313, rs2125485467, rs2125489334, rs2125500491, rs2125304900, rs748927280, rs2125501295, rs539189291, rs1372774777, rs587783015, rs189395222, rs2125471177, rs2125500141, rs1342970033, rs2125484499, rs2125574108, rs1046799192, rs2125485040, rs2125506459, rs114342808, rs2465028311, rs1664667136, rs786205450, rs1664329331, rs2528196636, rs2465025258, rs2528114733, rs1254393801, rs1665070172, rs2528202588, rs2528204865, rs1391910861, rs748175297, rs2528199038, rs2528104500, rs2528146906, rs1481850123, rs756544059, rs2528147327, rs2528195914, rs2528243703, rs2528165311, rs2527717111, rs2528148484, rs2465032554, rs2528198937, rs181410446, rs2528148933, rs2528148331, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs2528104857, rs281865175, rs2527647145, rs2465024880, rs2527647307, rs2528205271, rs1571572316, rs62645747, rs2528114749, rs863224862, rs2528198657, rs2465029967, rs2465027395, rs2465025960, rs749746650, rs2528111983, rs2528200659, rs1664277152, rs2528147634, rs2528149815, rs2528151865, rs2528203102, rs2527715389, rs1359621977, rs777323179, rs2125483466, rs2527625515, rs878853364, rs767648174, rs878853371, rs878853367, rs764256655, rs115352681, rs886043587, rs1664298414, rs2528108972, rs752824817, rs1301895052, rs1658697788, rs2527715135, rs2465023834, rs2528196780, rs1664642051, rs1658690599, rs149216103, rs1208370356, rs2527715700, rs2528150148, rs2528152663, rs2528196742, rs2528205083, rs2465030529, rs2528204854, rs772819260, rs1256037063, rs762223255, rs2465033087, rs1571897130, rs2528243560, rs2528197857, rs2465028490, rs1667269806, rs776591659, rs2528200607, rs2464580469, rs2528197381, rs2465032365, rs2528222834, rs2528221941, rs2528196951, rs2528148995, rs2528110973, rs2125485227, rs2528196103, rs1665099725, rs2528244159, rs2528152112, rs760419335, rs1335922101, rs755489411, rs116471343, rs1057520152, rs62636260, rs1085307972, rs369775002, rs145282040, rs773914330, rs1553263218, rs757740068, rs1553260321, rs62645748, rs564754426, rs745422941, rs778627080, rs150412614, rs781705903, rs1571848688, rs1571540037, rs143511261, rs763324776, rs1571878277, rs745348555, rs1571557864, rs1450635782, rs62635649, rs1571848744, rs768905244, rs1571540258, rs62635048, rs1658684590, rs1658688864, rs778731851, rs1660503192, rs1660516364, rs1664289410, rs1664317534, rs369184026, rs1665086143, rs768713412, rs1665487563, rs267598278, rs1654723466, rs1167867158, rs1660515780, rs866822473, rs963201816, rs1664325377, rs1558138741, rs760544654, rs1654722914, rs1665282720, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1665282478, rs1658673791, rs763111500, rs1664341626, rs1665063400, rs1664292210, rs1664650245, rs1558132353, rs1665482895, rs1658689096, rs762835866, rs1665066272, rs878853368, rs780580887, rs1659642763, rs753224594, rs1664669402, rs62636274, rs1667264651, rs1664779239, rs1460946384, rs1664767158	RCV001327036 RCV001316680 RCV001323343 RCV001343048 RCV001350386 RCV001359699 RCV001376225 RCV001376347 RCV001376285 RCV001376472 RCV001379038 RCV001377781 RCV001378415 RCV001377494 RCV001379001 RCV001379460 RCV001378739 RCV001377887 RCV001377318 RCV001379356 RCV001378912 RCV001378741 RCV001376938 RCV001854502 RCV002498468 RCV003764799 RCV001376374 RCV001046839 RCV003764800 RCV001380408 RCV001854503 RCV000529725 RCV000542027 RCV001857424 RCV001378740 RCV002514529 RCV002514530 RCV001857425 RCV006270222 RCV001047855 RCV001380026 RCV001387134 RCV001389589 RCV001388292 RCV001381325 RCV001386224 RCV001387606 RCV001388311 RCV001390796 RCV001381291 RCV001382300 RCV001382442 RCV001385188 RCV001380183 RCV001383015 RCV001388639 RCV001384351 RCV001386035 RCV001384585 RCV001387814 RCV001390944 RCV005005960 RCV001580679 RCV001580684 RCV001580686 RCV001591927 RCV001591930 RCV002538607 RCV003451848 RCV002539755 RCV001733784 RCV001885124 RCV001807895 RCV001808102 RCV001808918 RCV002028701 RCV001926051 RCV001884818 RCV001924961 RCV001881511 RCV001928503 RCV001969116 RCV001904204 RCV001978979 RCV001941693 RCV001941821 RCV001936758 RCV001908346 RCV001995245 RCV001973133 RCV001995121 RCV002045743 RCV002031648 RCV001955988 RCV001975783 RCV001985485 RCV001954471 RCV001977555 RCV001940368 RCV001943707 RCV002022710 RCV001914281 RCV001971616 RCV001901218 RCV002000171 RCV001912801 RCV001994673 RCV001946533 RCV002035427 RCV001900241 RCV001942102 RCV002002933 RCV001929407 RCV002002484 RCV002041452 RCV001951032 RCV002037978 RCV002020594 RCV001991452 RCV001963012 RCV001942337 RCV001956079 RCV001956081 RCV001961694 RCV001953514 RCV001927726 RCV001944050 RCV001918230 RCV001960197 RCV001942524 RCV001907778 RCV002011871 RCV001986193 RCV000792250 RCV003764878 RCV002289344 RCV002291111 RCV003765070 RCV002623262 RCV002592076 RCV002651390 RCV002651391 RCV002664199 RCV002651386 RCV002664200 RCV002634327 RCV002651388 RCV002651389 RCV002664202 RCV002633018 RCV002594786 RCV002590540 RCV002614679 RCV002666910 RCV002671469 RCV002643511 RCV002690589 RCV002686099 RCV002740100 RCV002790651 RCV002776168 RCV002828472 RCV002833449 RCV002833622 RCV002829419 RCV002839242 RCV000006084 RCV000006085 RCV000006086 RCV000006087 RCV002490326 RCV000006090 RCV000006091 RCV000006094 RCV002858692 RCV000006095 RCV002880916 RCV002853215 RCV002868055 RCV002947661 RCV002942001 RCV002943326 RCV002949588 RCV000199723 RCV003009549 RCV003010297 RCV003016957 RCV003018004 RCV003018726 RCV003023276 RCV003031501 RCV003026335 RCV003019484 RCV003041940 RCV003057918 RCV003030352 RCV003051851 RCV003047386 RCV003054034 RCV003050338 RCV003040565 RCV003061908 RCV001390795 RCV001069480 RCV001854803 RCV002519764 RCV003228863 RCV001040337 RCV001202291 RCV001245164 RCV003314447 RCV003778244 RCV003779164 RCV003779165 RCV003779166 RCV005220725 RCV003455893 RCV003784549 RCV003797797 RCV003798070 RCV003782856 RCV003782949 RCV003780954 RCV003780956 RCV003780958 RCV003780959 RCV003780960 RCV003780962 RCV003781154 RCV003779473 RCV003787130 RCV003789290 RCV003792849 RCV003790162 RCV003787852 RCV003784984 RCV003806234 RCV003808686 RCV003805421 RCV003803957 RCV003800612 RCV003803136 RCV003801097 RCV003795245 RCV003800277 RCV003817820 RCV003809460 RCV003801703 RCV003809826 RCV003815417 RCV003815433 RCV003813331 RCV003807353 RCV003812600 RCV003812639 RCV003812860 RCV003813016 RCV003802494 RCV003810306 RCV003989203 RCV005006434 RCV005216259 RCV001064315 RCV001048729 RCV001856828 RCV003449262 RCV001389640 RCV001390794 RCV001053730 RCV001857211 RCV001865636 RCV001064730 RCV001057046 RCV000032815 RCV001040018 RCV001542641 RCV001211342 RCV001236260 RCV001869175 RCV001869189 RCV000820670 RCV000801518 RCV000817389 RCV000816727 RCV001858643 RCV001042752 RCV001869335 RCV001824163 RCV001809876 RCV001377780 RCV001860526 RCV001862718 RCV002549197 RCV001062456 RCV001055799 RCV001047854 RCV001047221 RCV001042872 RCV001052034 RCV001068280 RCV001047466 RCV001044718 RCV001049924 RCV001058927 RCV001049160 RCV001044149 RCV001065861 RCV001854256 RCV001045412 RCV001862552 RCV003455393 RCV002554660 RCV001205896 RCV002557921 RCV003455417 RCV002554698 RCV003455380 RCV001862600 RCV001378742 RCV001862586 RCV001593255 RCV003768991 RCV001390793 RCV001386064 RCV001380407 RCV001862707 RCV001859201 RCV001204868 RCV001201454 RCV001208214 RCV001203809 RCV001203808 RCV001228468 RCV001225983 RCV001230756 RCV001230470 RCV001244716 RCV001243685 RCV001246724 RCV001226168 RCV005012692 RCV001879782 RCV003770299 RCV001879784 RCV002568707 RCV005225328 RCV001879783 RCV001290091 RCV003989663 RCV003989662 RCV003987818 RCV001305823	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa-deafness syndrome	Likely pathogenic; Pathogenic	rs62635654	RCV003447471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe early-childhood-onset retinal dystrophy	Pathogenic	rs2528201250	RCV005626822	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stargardt disease	Pathogenic	rs564754426	RCV000678549	★★★★☆ 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
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive bestrophinopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS NEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa 13	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa, Recessive	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	BEFREE	12187427		★☆☆☆☆ Found in Text Mining only
Achromatopsia 3	Achromatopsia	BEFREE	12187427		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29391521		★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	32996714	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39922756	Stimulate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber type 1	Leber congenital amaurosis	Pubtator	36099972, 37762234, 40243434, 40408095	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	11231775, 11389483, 11850624, 12015276, 12187427, 12361571, 12573663, 15459956, 15851977, 16505055, 16543197, 16936081, 17306875, 18055816, 18334942, 18632300, 18682814, 19407021, 20956273, 21602930, 22065545, 22219627, 22398208, 23362850, 23379534, 23449718, 24565864, 24715753, 27880076, 30239717		★★☆☆☆ 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
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Anophthalmia	Pubtator	40141357	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	20032318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	20032318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	20032318	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy	Atrophy	Pubtator	33342761	Associate	★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	Bestrophinopathy	CLINVAR_DG	23379534, 27258436, 28181551, 28819299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	40141357, 40725401	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	40725401	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	28800606		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	28800606	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	26957898, 34003923	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	20956273, 23379534, 23767994, 28819299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	23767994, 28819299		★☆☆☆☆ Found in Text Mining only
Congenital Amaurosis of Retinal Origin	Dysgenesis Neuroepithelialis Retinae	CTD_human_DG	11389483		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	15316081, 25701872		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	21484995		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	16936081, 24811962, 26165328, 29391521, 29869924		★☆☆☆☆ Found in Text Mining only
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	BEFREE	12187427		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	CTD_human_DG	11389483		★☆☆☆☆ Found in Text Mining only
Eye Diseases Hereditary	Eye disease	Pubtator	30374144	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ 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
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	BEFREE	16543197, 21484995		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	LHGDN	16543197		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	23196746		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23991284		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile arthritis	Arthritis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	19407021, 24138049, 30578499		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	11231775, 11389483, 11850624, 12361571, 12567265, 15316081, 15459956, 15851977, 16543197, 16936081, 16987889, 17234588, 17660513, 18407265, 18682814, 19407021, 19840725, 22065545, 22219627, 22398208, 23001562, 23379534, 23443024, 24339791, 24565864, 24811962, 27880076, 28819299, 29188511, 29893966, 30239717, 31145883		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CTD_human_DG	11389483		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	11389483, 15024725, 16272259, 16505055, 17660513, 18055820, 18334942, 18682808, 18682814, 18936139, 19401883, 19753312, 19840725, 20683928, 21602930, 22219627, 23379534, 23443024, 24715753, 24811962, 26147992, 26626312, 26872607, 27880076, 28819299, 29391521, 29844330, 30416334, 34003923, 34884448, 34946856, 36369640, 37240262, 37762234, 37804373, 39189993, 39728598, 40243434, 40408095	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	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 8	Leber Congenital Amaurosis	CLINVAR_DG	10508521, 11231775, 11389483, 15024725, 15459956, 16543197, 18055816, 18682808, 19140180, 19401883, 20079931, 20591486, 20956273, 22065545, 22863181, 23379534, 23449718, 23462753, 23847139, 24265693, 24512366, 24715753, 25133751, 26147992, 27113771, 28512305, 30576320		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 8	Leber Congenital Amaurosis	UNIPROT_DG	11231775, 11389483, 12567265, 12573663, 12700176, 12843338, 15024725, 15459956, 15691574, 16205573, 16936081, 17128490, 17438615, 17724218, 18055821, 18682808, 20108431, 20956273, 21602930, 28819299		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 8	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG	11231775, 21484995		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 8	Leber Congenital Amaurosis	BEFREE	31145883		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 8	Leber Congenital Amaurosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	24811962, 29391521, 33342761, 33773389, 34003923, 34884448, 37762234, 40243434, 40408095	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	CLINVAR_DG	15024725, 17297678, 29391521		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy	Macular dystrophy	BEFREE	29391521		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	28129017		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	ORPHANET_DG	19375515		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	21484995, 24138049		★☆☆☆☆ Found in Text Mining only
Nanophthalmos	Nanophthalmos	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nanophthalmos 1	Nanophthalmos	Pubtator	23077403, 33203948	Associate	★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	BEFREE	12187427		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Congenital	Nystagmus	Pubtator	33342761	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	37804373	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular hypertension	Pubtator	40243434	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Paravenous chorioretinal atrophy	Paravenous chorioretinal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	11389483, 37804373	Associate	★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pigmented Paravenous Chorioretinal Atrophy	Pigmented Paravenous Chorioretinal Atrophy	BEFREE	15623792, 17234588		★☆☆☆☆ Found in Text Mining only
Pigmented Paravenous Chorioretinal Atrophy	Pigmented Paravenous Chorioretinal Atrophy	ORPHANET_DG	15623792		★☆☆☆☆ Found in Text Mining only
Pigmented Paravenous Chorioretinal Atrophy	Pigmented Paravenous Chorioretinal Atrophy	UNIPROT_DG	15623792		★☆☆☆☆ Found in Text Mining only
Pigmented Paravenous Chorioretinal Atrophy	Pigmented Paravenous Chorioretinal Atrophy	GENOMICS_ENGLAND_DG	21484995		★☆☆☆☆ Found in Text Mining only
Pigmented Paravenous Chorioretinal Atrophy	Pigmented Paravenous Chorioretinal Atrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pigmented Paravenous Chorioretinal Atrophy	Pigmented Paravenous Chorioretinal Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pigmented paravenous retinochoroidal atrophy	Pigmented Paravenous Chorioretinal Atrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASCAT_DG	26284813		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Degeneration	Retinal degeneration	Pubtator	19401883, 34946856, 35538629	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	CTD_human_DG	11389483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Detachment	Retinal detachment	Pubtator	11389483	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal Diseases	BEFREE	18463160, 23001562, 23449718, 27007588, 30608181, 31634437		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	27690673, 29391521, 32423767, 32931148	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	10508521, 18055820, 20591486, 30718709		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	12361571, 15459956, 17234588, 19401883, 20956273, 21484995, 22065545, 23362850, 23379534, 23767994, 24535598, 24565864, 24715753, 25147295, 25701872, 27007588, 27690673, 28129017, 28341475, 28819299, 29893966, 31322236		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	BEFREE	27113771		★☆☆☆☆ Found in Text Mining only
Retinal Pigment Epithelial Detachment	Retinal Pigment Epithelial Detachment	CTD_human_DG	11389483		★☆☆☆☆ Found in Text Mining only
Retinal telangiectasia	Retinal telangiectasia	BEFREE	22065545, 25147295		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	10508521, 11389483, 16272259		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11389483, 11559858, 15316081, 15459956, 16272259, 16543197, 18407265, 21484995, 22065545, 23001562, 23362850, 23379534, 23592920, 23871396, 24535598, 24565864, 24715753, 25701872, 27380427, 27806333, 28819299, 29188511, 29391521, 29893966, 30092450, 30239717, 30593785, 31145883, 31322236		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	11389483, 16272259, 16505055, 16519681, 18334942, 22128245, 22876132, 23077403, 23379534, 23592920, 24715753, 26872607, 27806333, 28819299, 29391521, 30092450, 31960602, 32244200, 33128952, 33633436, 34003923, 34034222, 34946856, 35538629, 36099972, 37762234, 38579141, 40243434, 40408095, 8647247	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	16272259		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	21602930, 26497376, 30718709		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 12	Retinitis pigmentosa	Pubtator	38579141	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 12 (disorder)	Retinitis Pigmentosa	UNIPROT_DG	10508521, 11389483, 11559858, 12573663, 12843338, 15459956, 19140180, 19956407, 20591486, 20956273, 21987686, 22065545, 22128245, 22334370, 28819299		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 12 (disorder)	Retinitis Pigmentosa	CLINVAR_DG	10508521, 11231775, 11389483, 15024725, 15459956, 16543197, 18055816, 18682808, 19140180, 19401883, 20079931, 20591486, 20956273, 22065545, 22863181, 23379534, 23449718, 23462753, 23847139, 24265693, 24512366, 24715753, 25133751, 26147992, 27113771, 28512305		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 12 (disorder)	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	11231775, 21484995		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 12 (disorder)	Retinitis Pigmentosa	BEFREE	11850624, 12361571, 17234588		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 12 (disorder)	Retinitis Pigmentosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	27115612		★☆☆☆☆ Found in Text Mining only
Retinoschisis, Juvenile, X-Linked	Retinoschisis, X-Linked	BEFREE	30608181		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	22065545, 23767994, 28819299		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	22863181, 23443024	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STARGARDT DISEASE 1 (disorder)	Stargardt disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis Intermediate	Uveitis	Pubtator	27690673	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	11389483, 15459956, 22065545, 23871396, 25147295		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	11389483, 17660513, 26872607, 33128952, 33342761, 40408095	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only