GUCY2D (guanylate cyclase 2D, retinal)

Gene

• Entrez ID: 3000
• Gene name: Guanylate cyclase 2D, retinal
• Gene symbol: GUCY2D
• Synonyms (NCBI Gene): CACD, CACD1, CG-E, CORD5, CORD6, CSNB1I, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12602083	G>A,C,T	Pathogenic	Splice acceptor variant
rs28933695	G>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61749665	G>T	Likely-benign, pathogenic, benign	Missense variant, coding sequence variant
rs61749668	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs61749670	C>-	Likely-pathogenic, pathogenic, not-provided	Frameshift variant, coding sequence variant
rs61749671	C>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs61749678	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs61749679	C>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs61749682	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs61749755	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61749758	T>A,C	Likely-pathogenic, not-provided	Splice donor variant
rs61750168	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61750172	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61750173	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic, not-provided	Missense variant, coding sequence variant
rs61750174	C>A,G,T	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs61750187	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs138836357	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs140638938	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs141967896	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143745703	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs146149224	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146849545	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148136213	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs188568530	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs201414567	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201587670	G>A,C	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs267606857	T>C	Pathogenic	Coding sequence variant, missense variant
rs386834239	->ACCA	Pathogenic	Frameshift variant, coding sequence variant
rs529594203	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs541299023	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs552184470	TCTGCT>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Inframe deletion, coding sequence variant
rs557108466	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs573367793	G>C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs748798324	C>T	Pathogenic	Coding sequence variant, stop gained
rs750889782	G>A	Pathogenic	Coding sequence variant, missense variant
rs757823463	G>C	Pathogenic	Splice donor variant
rs763890649	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs768390959	C>T	Pathogenic	Stop gained, coding sequence variant
rs775105018	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs776298636	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs781725943	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205499	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786205500	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794727952	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs868557040	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs878853342	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs945734402	A>G	Pathogenic	Splice acceptor variant
rs952193754	GCCGCCGCCCGCCTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1006935198	C>G	Pathogenic	Stop gained, coding sequence variant
rs1064797217	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1290420698	C>T	Pathogenic	Stop gained, coding sequence variant
rs1341592819	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1348467293	G>A	Pathogenic	Splice donor variant
rs1555635550	GCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCG>-	Pathogenic	Splice donor variant, intron variant, splice acceptor variant, coding sequence variant
rs1555635668	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555635778	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555635925	->CGTGCTCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567958644	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567961680	C>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1598144694	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598146173	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598146589	->TGGCTGGGGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598149154	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1598149187	T>G	Pathogenic	Missense variant, coding sequence variant
rs1598149659	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598150539	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1598150793	G>T	Likely-pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001653	Function	Peptide receptor activity	IBA
GO:0001750	Component	Photoreceptor outer segment	IDA	7912093
GO:0004383	Function	Guanylate cyclase activity	IBA
GO:0004383	Function	Guanylate cyclase activity	IDA	21928830, 30319355
GO:0004383	Function	Guanylate cyclase activity	IEA
GO:0004383	Function	Guanylate cyclase activity	TAS	9888789
GO:0004672	Function	Protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	21078983, 21124868
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005640	Component	Nuclear outer membrane	TAS	7777544
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	30319355
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	1356371
GO:0006182	Process	CGMP biosynthetic process	IBA
GO:0006182	Process	CGMP biosynthetic process	IEA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IBA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	TAS	1356371
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9888789
GO:0009190	Process	Cyclic nucleotide biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016849	Function	Phosphorus-oxygen lyase activity	IEA
GO:0019934	Process	CGMP-mediated signaling	IEA
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	IEA
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	TAS
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038023	Function	Signaling receptor activity	TAS	1356371
GO:0042622	Component	Photoreceptor outer segment membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS

Other IDs

• MIM: 600179
• HGNC: 4689
• e!Ensembl: ENSG00000132518

Protein

• UniProt ID: Q02846
• Protein name: Retinal guanylyl cyclase 1 (RETGC-1) (EC 4.6.1.2) (CG-E) (Guanylate cyclase 2D, retinal) (Rod outer segment membrane guanylate cyclase) (ROS-GC)
• Protein function: Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:15123990, PubMed:21928830, PubMed:26100624, PubMed:30319355, PubMed:9600905).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	72 → 400	Receptor family ligand binding region	Family
  PF07714	PK_Tyr_Ser-Thr	554 → 805	Protein tyrosine and serine/threonine kinase	Domain
  PF07701	HNOBA	808 → 865	Heme NO binding associated	Domain
  PF00211	Guanylate_cyc	871 → 1058	Adenylate and Guanylate cyclase catalytic domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Retina. {ECO:0000269|PubMed:7912093}.
• Sequence:

  MTACARRAGGLPDPGLCGPAWWAPSLPRLPRALPRLPLLLLLLLLQPPALSAVFTVGVLG
  PWACDPIFSRARPDLAARLAAARLNRDPGLAGGPRFEVALLPEPCRTPGSLGAVSSALAR
  VSGLVGPVNPAACRPAELLAEEAGIALVPWGCPWTQAEGTTAPAVTPAADALYALLRAFG
  WARVALVTAPQDLWVEAGRSLSTALRARGLPVASVTSMEPLDLSGAREALRKVRDGPRVT
  AVIMVMHSVLLGGEEQRYLLEAAEELGLTDGSLVFLPFDTIHYALSPGPEALAALANSSQ
  LRRAHDAVLTLTRHCPSEGSVLDSLRRAQERRELPSDLNLQQVSPLFGTIYDAVFLLARG
  VAEARAAAGGRWVSGAAVARHIRDAQVPGFCGDLGGDEEPPFVLLDTDAAGDRLFATYML
  DPARGSFLSAGTRMHFPRGGSAPGPDPSCWFDPNNICGGGLEPGLVFLGFLLVVGMGLAG
  AFLAHYVRHRLLHMQMVSGPNKIILTVDDITFLHPHGGTSRKVAQGSRSSLGARSMSDIR
  SGPSQHLDSPNIGVYEGDRVWLKKFPGDQHIAIRPATKTAFSKLQELRHENVALYLGLFL
  ARGAEGPAALWEGNLAVVSEHCTRGSLQDLLAQREIKLDWMFKSSLLLDLIKGIRYLHHR
  GVAHGRLKSRNCIVDGRFVLKITDHGHGRLLEAQKVLPEPPRAEDQLWTAPELLRDPALE
  RRGTLAGDVFSLAIIMQEVVCRSAPYAMLELTPEEVVQRVRSPPPLCRPLVSMDQAPVEC
  ILLMKQCWAEQPELRPSMDHTFDLFKNINKGRKTNIIDSMLRMLEQYSSNLEDLIRERTE
  ELELEKQKTDRLLTQMLPPSVAEALKTGTPVEPEYFEQVTLYFSDIVGFTTISAMSEPIE
  VVDLLNDLYTLFDAIIGSHDVYKVETIGDAYMVASGLPQRNGQRHAAEIANMSLDILSAV
  GTFRMRHMPEVPVRIRIGLHSGPCVAGVVGLTMPRYCLFGDTVNTASRMESTGLPYRIHV
  NLSTVGILRALDSGYQVELRGRTELKGKGAEDTFWLVGRRGFNKPIPKPPDLQPGSSNHG
  ISLQEIPPERRRKLEKARPGQFS

• Sequence length: 1103

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Olfactory transduction
Phototransduction

Reactome:

Inactivation, recovery and regulation of the phototransduction cascade

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
Autosomal recessive optic atrophy	Likely pathogenic; Pathogenic	rs2151801050, rs2545424818	RCV003389497 RCV003389587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Choroidal dystrophy, central areolar, 1	Pathogenic; Likely pathogenic	rs61749679, rs61750168, rs61750184, rs61749668, rs61749670, rs1338490917, rs1567961697, rs747951577, rs756730335, rs940175403, rs772242251, rs61750172, rs750889782, rs757823463, rs1006935198, rs61750171, rs748798324, rs1200134985	RCV005025142 RCV002477250 RCV000714550 RCV005016379 RCV002498447 RCV005014526 RCV005014543 RCV005014735 RCV002492137 RCV005019589 RCV005019607 RCV001197374 RCV005019167 RCV005021099 RCV000714547 RCV005021138 RCV000791170 RCV005021415	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone dystrophy	Likely pathogenic; Pathogenic	rs61749668, rs61750172, rs61750173	RCV000505073 RCV001003042 RCV001003043	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs61750173, rs1598150539, rs1598150793	RCV003324497 RCV002267758 RCV002267759	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy 6	Likely pathogenic; Pathogenic	rs61749676, rs61749679, rs61750161, rs61750168, rs61750183, rs61750184, rs61750185, rs61749668, rs61750194, rs61749670, rs281865409, rs61749663, rs61749673, rs61749674, rs1451359371, rs2151801563, rs2151799452, rs2151799492, rs2151800620, rs765910207, rs1338490917, rs1567961697, rs1975964112, rs2151801050, rs2151799567, rs747951577, rs2151803659, rs138922415, rs2151799287, rs2151802829, rs756730335, rs2151803362, rs2151803131, rs1424348888, rs940175403, rs772242251, rs794727952, rs2545426334, rs2545418704, rs2545425374, rs2545418608, rs2545427576, rs2545420239, rs1210713719, rs2545423992, rs2545425310, rs61750172, rs61750173, rs267606857, rs1395017892, rs2545426444, rs1195374954, rs1975665578, rs2545417489, rs2545417716, rs2545418010, rs2545420192, rs770255396, rs61750164, rs2545424362, rs772444228, rs1738565324, rs1000501472, rs776817542, rs2545423875, rs2545426022, rs1975931968, rs1975937052, rs2545427510, rs2545420133, rs55916957, rs2545423946, rs2545418921, rs1275955653, rs2545417186, rs1567956946, rs2545417252, rs2545417991, rs2545420235, rs2545423955, rs2545426279, rs2545426712, rs2545426389, rs201587670, rs1555635778, rs143745703, rs1348467293, rs750889782, rs757823463, rs1006935198, rs61750171, rs1598146589, rs748798324, rs1598144694, rs1290420698, rs1598146173, rs945734402, rs1598149154, rs1598150539, rs1168076308, rs1200134985, rs1975957350, rs866511152, rs766646217, rs769818541, rs1975955933, rs1975911430, rs756044745, rs1308509257, rs1975693728, rs1349155167, rs765463082, rs1975957618, rs868612148, rs1975943416, rs1598150748, rs1975959442	RCV001377421 RCV000989737 RCV001047937 RCV000543628 RCV001857414 RCV000714548 RCV001381496 RCV001053255 RCV002514513 RCV000693446 RCV001388964 RCV002513910 RCV003764783 RCV001306870 RCV001377062 RCV001377390 RCV001385235 RCV001390194 RCV001381442 RCV001383052 RCV001383053 RCV001388269 RCV001389184 RCV003771780 RCV001866149 RCV001944799 RCV001945092 RCV001982693 RCV001960709 RCV001951185 RCV001963076 RCV001986324 RCV002012499 RCV003774717 RCV003064395 RCV003051229 RCV001852248 RCV002594147 RCV002866466 RCV002886709 RCV002938755 RCV002962124 RCV003015504 RCV003019760 RCV003034275 RCV003066125 RCV000009949 RCV000009951 RCV000009953 RCV003777438 RCV003785526 RCV003784564 RCV003780575 RCV003783692 RCV003783693 RCV003783694 RCV003783696 RCV003783697 RCV003783699 RCV003783700 RCV003783701 RCV003783702 RCV003793278 RCV003786522 RCV003807853 RCV003806329 RCV003806645 RCV003791245 RCV003806015 RCV003804341 RCV003799195 RCV003805308 RCV003803174 RCV003801102 RCV003802663 RCV003800253 RCV003800805 RCV003804568 RCV003813584 RCV003810024 RCV003815214 RCV003810575 RCV003810145 RCV003810313 RCV001854486 RCV000556412 RCV000700865 RCV003767829 RCV002531901 RCV003768027 RCV000704819 RCV000714545 RCV003768224 RCV003768467 RCV000791169 RCV000796233 RCV003768615 RCV001858713 RCV001051980 RCV000989740 RCV001869428 RCV001860527 RCV001068217 RCV001068218 RCV001056225 RCV001071718 RCV001862558 RCV001388270 RCV001170003 RCV001208974 RCV001207599 RCV001234701 RCV001230310 RCV001235694 RCV001306871 RCV003770304 RCV001879810 RCV005225330 RCV003770362 RCV003770363	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital blindness	Pathogenic	rs1452774826	RCV001807847	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-onset retinal dystrophy	Pathogenic	rs386834239, rs1975973086	RCV001250817 RCV001250859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GUCY2D retinopathy	Likely pathogenic	rs1341592819	RCV002568711	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GUCY2D-related disorder	Pathogenic	rs61750168, rs61750185, rs1290420698, rs1200134985	RCV004748575 RCV004748576 RCV004726700 RCV003396718	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GUCY2D-related recessive retinopathy	Likely pathogenic; Pathogenic	rs61749676, rs61749679, rs281865410, rs61750168, rs61750184, rs61750185, rs61750187, rs61749668, rs61749670, rs281865409, rs61749663, rs61749673, rs61749674, rs138922415, rs940175403, rs61749755, rs750889782, rs757823463, rs1006935198, rs61750171, rs748798324, rs1290420698, rs1598146173, rs868557040, rs1200134985, rs769818541, rs756044745, rs765463082, rs1429807175	RCV005053888 RCV005053890 RCV005053895 RCV005053896 RCV005053897 RCV005053898 RCV005053899 RCV005053900 RCV005053901 RCV005053902 RCV005053903 RCV005053904 RCV005053905 RCV005053988 RCV005053999 RCV005053885 RCV005053952 RCV005053953 RCV005053954 RCV005053955 RCV005053956 RCV005053957 RCV005053960 RCV005053962 RCV005053965 RCV005053966 RCV005053974 RCV005053977 RCV005053978	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs61749676, rs61750161, rs61750168, rs61749668, rs61749670, rs765910207, rs940175403, rs1555635925, rs143745703, rs750889782, rs61750171, rs1598146589, rs1598149659, rs1598149187, rs781725943, rs766646217, rs61750188, rs931906767, rs765463082, rs1238251797, rs777075412, rs1598150748	RCV003398694 RCV005055574 RCV000787613 RCV004689453 RCV001003037 RCV006266737 RCV004700917 RCV000504680 RCV004800497 RCV001003041 RCV006261985 RCV000787611 RCV000787612 RCV001003039 RCV001003040 RCV005432572 RCV005236589 RCV005419054 RCV004690034 RCV005419060 RCV004699245 RCV001262104	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 1	Likely pathogenic; Pathogenic	rs1975693830, rs61749676, rs61749679, rs61749683, rs63749078, rs61749758, rs61749759, rs61750161, rs281865410, rs61750168, rs61750179, rs61750183, rs61750184, rs61750185, rs61750187, rs281865408, rs61750188, rs61750189, rs281865411, rs61749668, rs61750194, rs63340060, rs61749670, rs281865409, rs63749076, rs61749671, rs61749663, rs61749673, rs61749674, rs1451359371, rs2151801563, rs2151799452, rs2151799492, rs2151800620, rs765910207, rs1338490917, rs1567961697, rs1975964112, rs2151803661, rs751822337, rs2151799674, rs2151801050, rs2151799567, rs747951577, rs2151803659, rs138922415, rs2151799287, rs2151802829, rs756730335, rs2151803362, rs2151803131, rs2151802780, rs1424348888, rs61750172, rs2151802518, rs2151799357, rs2545418937, rs940175403, rs772242251, rs1555634640, rs794727952, rs2545426334, rs2545418704, rs2545425374, rs2545418608, rs2545427576, rs2545420239, rs1210713719, rs2545423992, rs2545425310, rs61749755, rs61750173, rs2151802832, rs1395017892, rs2545426444, rs1195374954, rs1975665578, rs2545417489, rs2545417716, rs2545418010, rs2545420192, rs770255396, rs61750164, rs2545424362, rs772444228, rs1738565324, rs1000501472, rs776817542, rs2545423875, rs2545426022, rs1975931968, rs1975937052, rs2545427510, rs2545420133, rs55916957, rs2545423946, rs2545418921, rs1275955653, rs2545417186, rs1567956946, rs2545417252, rs2545417991, rs2545420235, rs2545423955, rs2545426279, rs2545426712, rs2545426389, rs2545420928, rs1555635550, rs763890649, rs1555635668, rs201587670, rs1555635778, rs143745703, rs1348467293, rs750889782, rs757823463, rs1006935198, rs61750171, rs768390959, rs1567958644, rs1598146589, rs748798324, rs1598144694, rs1290420698, rs386834239, rs1598146173, rs945734402, rs1598150539, rs1168076308, rs1200134985, rs1975957350, rs866511152, rs766646217, rs769818541, rs1975911430, rs756044745, rs1308509257, rs1975693728, rs1349155167, rs1975665345, rs1975675766, rs1403798841, rs1975678842, rs755999834, rs1975743813, rs1975768901, rs1975868246, rs1975868797, rs931906767, rs765463082, rs1975890613, rs1975909279, rs1975911358, rs1341592819, rs762981013, rs573270795, rs1975943992, rs1975945845, rs1306952187, rs764954235, rs1975957618, rs868612148, rs1429807175, rs1975971228, rs1374426388, rs1975751307, rs1975893449, rs1975923246, rs1975943416, rs1975943461, rs1975868606, rs1598150748, rs1975959442	RCV001352963 RCV001250829 RCV001037164 RCV001250861 RCV001250832 RCV000761437 RCV001250862 RCV001047937 RCV001250821 RCV000543628 RCV001250847 RCV001857414 RCV000714549 RCV001250850 RCV001250866 RCV001250811 RCV001250853 RCV001250855 RCV001250857 RCV001053255 RCV002514513 RCV001250823 RCV000009945 RCV001250813 RCV001250812 RCV001250819 RCV000009946 RCV001250872 RCV001250818 RCV001250827 RCV001377062 RCV001377390 RCV001385235 RCV001390194 RCV001381442 RCV001383052 RCV001383053 RCV001388269 RCV001389184 RCV001542699 RCV001542793 RCV001587466 RCV003771780 RCV001591785 RCV001944799 RCV001945092 RCV001982693 RCV001960709 RCV001951185 RCV001963076 RCV001986324 RCV002012499 RCV002226888 RCV002250039 RCV002250040 RCV002250977 RCV002251181 RCV002283918 RCV003064395 RCV003051229 RCV002510688 RCV001852248 RCV002594147 RCV002866466 RCV002886709 RCV002938755 RCV002962124 RCV003015504 RCV003019760 RCV003034275 RCV003066125 RCV000009944 RCV001065465 RCV001228516 RCV003329223 RCV003337852 RCV003785526 RCV003784564 RCV003780575 RCV003783692 RCV003783693 RCV003783694 RCV003783696 RCV003783697 RCV003783699 RCV003783700 RCV003783701 RCV003783702 RCV003793278 RCV003786522 RCV003807853 RCV003806329 RCV003806645 RCV003791245 RCV003806015 RCV003804341 RCV003799195 RCV003805308 RCV003803174 RCV003801102 RCV003802663 RCV003800253 RCV003800805 RCV003804568 RCV003813584 RCV003810024 RCV003815214 RCV003810575 RCV003810145 RCV003810313 RCV003991653 RCV001854486 RCV000590983 RCV000505564 RCV000558435 RCV000556412 RCV000700865 RCV003767829 RCV002531901 RCV000678575 RCV000704819 RCV000714546 RCV001250839 RCV001592935 RCV000761438 RCV003768467 RCV000791168 RCV000796233 RCV000850097 RCV000055776 RCV001858713 RCV001051980 RCV001869428 RCV001860527 RCV001068217 RCV001068218 RCV001056225 RCV001071718 RCV001862558 RCV001388270 RCV001208974 RCV001207599 RCV001234701 RCV001230310 RCV001235694 RCV001250820 RCV001250824 RCV001250863 RCV001250869 RCV001250828 RCV001250877 RCV001250864 RCV001250833 RCV001250868 RCV001250834 RCV001250836 RCV001250837 RCV001250838 RCV001250840 RCV001250841 RCV001250871 RCV001250844 RCV001250846 RCV001250860 RCV001250849 RCV001250879 RCV001250852 RCV001250854 RCV001250856 RCV001250873 RCV001250880 RCV001250876 RCV001250867 RCV001250865 RCV001250843 RCV001250845 RCV001250814 RCV001251456 RCV003770362 RCV003770363 RCV001267881	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy	Likely pathogenic; Pathogenic	rs61750173	RCV001271114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
maculopathy	Likely pathogenic	rs1341592819	RCV001003044	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Night blindness, congenital stationary, type1i	Pathogenic; Likely pathogenic	rs61749679, rs61750168, rs61749668, rs61749670, rs1338490917, rs1567961697, rs747951577, rs756730335, rs940175403, rs772242251, rs750889782, rs757823463, rs61750171, rs1975936949, rs1290420698, rs1200884939, rs1200134985	RCV005025142 RCV000850094 RCV005016379 RCV002498447 RCV005014526 RCV005014543 RCV005014735 RCV002492137 RCV005019589 RCV005019607 RCV005019167 RCV005021099 RCV005021138 RCV000850095 RCV000850098 RCV000850099 RCV005021415	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic atrophy	Pathogenic	rs61750185	RCV004815027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLR-related leukodystrophy	Pathogenic	rs750889782	RCV004760694	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive cone dystrophy (without rod involvement)	Likely pathogenic; Pathogenic	rs61750173	RCV000787614	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs61750173, rs61750171, rs1975743813	RCV006253463 RCV006254145 RCV006254252	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs61749679, rs61750161, rs61750168, rs61750183, rs61750185, rs61749669, rs940175403, rs772242251, rs878853342, rs61750172, rs61750173, rs143745703, rs757823463, rs61750171, rs1598146589, rs748798324, rs766646217, rs1975949139, rs61750188, rs769818541, rs1598150748	RCV004815022 RCV004815024 RCV001075745 RCV001073966 RCV004815026 RCV004815028 RCV004817199 RCV004817212 RCV000225447 RCV001074299 RCV000504851 RCV001075746 RCV004817943 RCV004817960 RCV004818004 RCV004818030 RCV001075542 RCV001074405 RCV001074931 RCV001075091 RCV001073763 RCV004814038	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs2151801050, rs61750173	RCV001591784 RCV001723556	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Visual impairment	Likely pathogenic; Pathogenic	rs61750173	RCV001271114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal electroretinogram	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMAUROSIS CONGENITA OF LEBER, TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL AREOLAR CHOROIDAL DYSTROPHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL AREOLAR CHOROIDAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOROIDAL SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I	—	CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OGUCHI DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE CONE DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL CONE DYSTROPHY 2	—	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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult-Onset Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	19038374		★☆☆☆☆ Found in Text Mining only
Alstrom Syndrome	Alstrom syndrome	Pubtator	26957854	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber type 1	Leber congenital amaurosis	Pubtator	10711674, 23035049, 32009068, 32255808, 33109612	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	CLINVAR_DG	10636733, 10951519, 11328726, 16505055, 17724218, 17964524, 20050595, 20683928, 23035049, 25477517, 26253563, 26626312, 8944027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	10766140, 10937591, 10951519, 11328726, 11528500, 11952088, 12325031, 12365911, 12623820, 14611946, 15024725, 15123990, 15512997, 15643614, 16272259, 16505055, 17724218, 18055821, 18161624, 18632300, 18936139, 20079931, 20104588, 20517349, 21602930, 22261762, 23035049, 23210611, 23308101, 23661368, 23663011, 24066033, 24108108, 26253563, 26427419, 27010695, 27375279, 27422788, 27881908, 28212877, 28403437, 29061346, 30358434, 31470097, 31693188, 31704230, 7581387, 8641699, 8750633, 9544846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	UNIPROT_DG	11035546, 12365911, 15123990, 17724218, 21602930, 27475985, 30319355, 8944027, 9888789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Anophthalmia	Pubtator	40141357	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	29378976		★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	36509996	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29454227		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29454227		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	20517349, 28403437, 33109612, 35314386	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29655782		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	40141357	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central areolar choroidal dystrophy	Central Areolar Choroidal Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central areolar choroidal sclerosis	Central Areolar Choroidal Sclerosis	BEFREE	19038374, 22695961, 31398255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central areolar choroidal sclerosis	Central Areolar Choroidal Sclerosis	ORPHANET_DG	22695961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central areolar choroidal sclerosis	Central Areolar Choroidal Sclerosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central areolar choroidal sclerosis	Central Areolar Choroidal Sclerosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	25660334		★☆☆☆☆ Found in Text Mining only
Choroidal Dystrophy, Central Areolar 1	Choroidal Dystrophy	UNIPROT_DG	22695961		★☆☆☆☆ Found in Text Mining only
Choroidal Dystrophy, Central Areolar 1	Choroidal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Choroidal Dystrophy, Central Areolar 1	Choroidal Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Choroidal sclerosis	Choroidal Sclerosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	36509996	Associate	★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	CLINVAR_DG	18055820		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone Dystrophy	Cone dystrophy	Pubtator	22194653, 23734073, 24480840, 36509996, 8782056	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone Dystrophy	Cone Dystrophy	BEFREE	23734073, 23977029		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	10430891, 10527670, 10529237, 10647719, 10951519, 11027131, 11115851, 11135490, 11709018, 11952088, 12596936, 15111605, 15175914, 15643614, 17041576, 17200655, 19038374, 20517349, 22695961, 25515582, 28369829, 29427171, 29559409, 30358434, 9618177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	10430891, 10527670, 10529237, 10647719, 10951519, 11027131, 11115851, 11135490, 11709018, 11952088, 12596936, 15111605, 15175914, 15643614, 17041576, 17200655, 17270046, 19038374, 20517349, 25082885, 25515582, 28369829, 29427171, 29559409, 30358434, 9618177		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	20517349, 26992781		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 5	Cone-rod dystrophy	BEFREE	12552567		★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	BEFREE	27703005, 29440533		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	11135490		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10951519, 12365911, 17651254, 19959640, 20517349, 23035049, 24997176, 25515582, 29061346		★☆☆☆☆ Found in Text Mining only
Enteropathy-Associated T-Cell Lymphoma	Enteropathy-Associated T-Cell Lymphoma	BEFREE	19444812, 28507749		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	32976546, 36490268	Associate	★☆☆☆☆ Found in Text Mining only
Eye poking	Motor Manifestations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Full thickness hole of macula lutea	Full Thickness Hole Of Macula Lutea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemeralopia	Hemeralopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	2297052		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	BEFREE	15643614		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	10398730, 10507726, 10615133, 15123990, 18055820, 18682808, 18936139, 19753312, 19959640, 20050595, 20683928, 23035049, 24066033, 25775262, 26100624, 26147992, 26253563, 26626312, 26957854, 28403437, 28966547, 31704230, 32000842, 32165824, 32255808, 32976546, 33670772, 34470921, 35314386, 36369640, 37327959, 39728598, 40478561, 8782056	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	10766140, 10951519, 11328726, 11952089, 12187427, 12325031, 12623820, 15123990, 15512997, 15643614, 16936081, 19959640, 20079931, 20517349, 22695961, 23035049, 23210611, 25477517, 25616661, 26253563, 26427419, 27475985, 28212877, 28403437, 29061346, 29548835, 29559409, 30358434, 31190471, 31704230, 8641699, 9618177, 9888789		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	21602930	Stimulate	★★★★★ 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 12 (disorder)	Leber Congenital Amaurosis	BEFREE	23308101, 23740938		★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS 9 (disorder)	Leber Congenital Amaurosis	BEFREE	28369829		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36224547	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11706081, 31693188		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	8104536		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	21552474, 32009068	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29655782		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	28685876		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	18361423		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10951519, 12365911, 17651254, 19959640, 20517349, 23035049, 24997176, 25515582, 29061346		★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	33109612	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	35567543	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31787032, 9870150		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12110339		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	33109612, 40478561	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	29559409		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	10615133		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nystagmus	Nystagmus	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nystagmus	Nystagmus	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nystagmus Pathologic	Nystagmus	Pubtator	26957854, 37327959	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29378976		★☆☆☆☆ Found in Text Mining only
Oguchi disease	Oguchi Disease	BEFREE	29559409		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	11004248, 11330042		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	26773759		★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	BEFREE	11521232		★☆☆☆☆ Found in Text Mining only
Retinal cone dystrophy 2	Retinal Cone Dystrophy	BEFREE	10529237, 10647719, 18332321, 18487367, 22695961, 23328348, 30358434, 31470097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal cone dystrophy 2	Retinal Cone Dystrophy	CLINVAR_DG	10636733, 10951519, 11328726, 16505055, 17724218, 17964524, 20050595, 20683928, 23035049, 25477517, 26253563, 26626312, 8944027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal cone dystrophy 2	Retinal Cone Dystrophy	UNIPROT_DG	12552567, 15111605, 18332321, 18487367, 20517349, 21552474, 22194653, 23734073, 24480840, 25515582, 27475985, 30319355, 9618177, 9683616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal cone dystrophy 2	Retinal Cone Dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal cone dystrophy 2	Retinal Cone Dystrophy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Degeneration	Retinal degeneration	Pubtator	26100624, 26352687	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	11952089, 15643614, 29061346, 29559409, 7806240		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	21552474, 23035049, 25775262, 32423767	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	BEFREE	22159006		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	11565546		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	31704230		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	BEFREE	18055820, 31630094		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	15643614, 16272259, 17270046, 20079931, 24265693, 25515582, 26267445, 26773759		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	16272259		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	16272259		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	16272259, 32976546	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	10430891, 10527670, 10529237, 10951519, 11027131, 11115851, 11135490, 11709018, 11952088, 15111605, 15175914, 15643614, 17041576, 17200655, 19038374, 20517349, 25515582, 28369829, 29427171, 29559409, 30358434, 9618177		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31787032		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23035049	Associate	★☆☆☆☆ Found in Text Mining only