CNGA3 (cyclic nucleotide gated channel subunit alpha 3)

Gene

• Entrez ID: 1261
• Gene name: Cyclic nucleotide gated channel subunit alpha 3
• Gene symbol: CNGA3
• Synonyms (NCBI Gene): ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3
• Chromosome: 2
• Chromosome location: 2q11.2
• Summary: This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs62156348	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs104893612	C>T	Pathogenic	Coding sequence variant, missense variant
rs104893613	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104893614	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104893615	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104893616	C>G	Pathogenic	Coding sequence variant, missense variant
rs104893617	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs104893619	G>A	Pathogenic	Coding sequence variant, missense variant
rs104893620	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104893621	C>T	Pathogenic	Coding sequence variant, missense variant
rs116448158	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs117522010	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs137852608	C>T	Pathogenic	Coding sequence variant, missense variant
rs138958917	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs141386891	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs146195955	G>C	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147118493	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs147415641	G>A	Likely-benign, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs148616345	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149802213	C>A,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs199837807	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs374258471	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs375152706	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs552069173	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs749036398	ACTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs753625117	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs753692812	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs757470958	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs762773298	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs763041373	G>A	Pathogenic	Coding sequence variant, missense variant
rs774676415	G>A	Pathogenic	Missense variant, coding sequence variant
rs777509481	C>T	Pathogenic	Coding sequence variant, stop gained
rs777878533	ATC>-	Pathogenic-likely-pathogenic	Inframe deletion, coding sequence variant
rs778114016	G>A	Pathogenic	Missense variant, coding sequence variant
rs781227859	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786205531	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs786205532	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064797258	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1330263985	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1464167194	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1553447991	G>C	Likely-pathogenic	Splice acceptor variant
rs1553450734	T>C	Pathogenic	Coding sequence variant, missense variant
rs1553450762	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553450764	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553450895	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553450979	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1558811557	->TCAGTGCTGCAGCCGGGGATCG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1558820134	G>T	Pathogenic	Coding sequence variant, missense variant
rs1558820471	TTA>AG	Pathogenic	Frameshift variant, coding sequence variant
rs1574385431	T>C	Pathogenic	Coding sequence variant, missense variant
rs1574390600	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1574390811	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574391103	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT561054	hsa-miR-3185	PAR-CLIP	20371350
MIRT561053	hsa-miR-1252-5p	PAR-CLIP	20371350
MIRT561052	hsa-miR-3611	PAR-CLIP	20371350
MIRT561054	hsa-miR-3185	PAR-CLIP	20371350
MIRT561053	hsa-miR-1252-5p	PAR-CLIP	20371350
MIRT561052	hsa-miR-3611	PAR-CLIP	20371350
MIRT561054	hsa-miR-3185	PAR-CLIP	20371350
MIRT561053	hsa-miR-1252-5p	PAR-CLIP	20371350
MIRT561052	hsa-miR-3611	PAR-CLIP	20371350
MIRT561054	hsa-miR-3185	PAR-CLIP	20371350
MIRT561053	hsa-miR-1252-5p	PAR-CLIP	20371350
MIRT561052	hsa-miR-3611	PAR-CLIP	20371350
MIRT899528	hsa-miR-1296	CLIP-seq
MIRT899529	hsa-miR-296-5p	CLIP-seq
MIRT899530	hsa-miR-4512	CLIP-seq
MIRT899531	hsa-miR-185	CLIP-seq
MIRT899532	hsa-miR-3150b-3p	CLIP-seq
MIRT899533	hsa-miR-3613-5p	CLIP-seq
MIRT899534	hsa-miR-4279	CLIP-seq
MIRT899535	hsa-miR-4306	CLIP-seq
MIRT899536	hsa-miR-4424	CLIP-seq
MIRT899537	hsa-miR-4644	CLIP-seq
MIRT899538	hsa-miR-4724-3p	CLIP-seq
MIRT899539	hsa-miR-4781-3p	CLIP-seq
MIRT899540	hsa-miR-4784	CLIP-seq
MIRT899541	hsa-miR-516a-3p	CLIP-seq
MIRT899542	hsa-miR-583	CLIP-seq
MIRT1966824	hsa-miR-1252	CLIP-seq
MIRT1966825	hsa-miR-1290	CLIP-seq
MIRT1966826	hsa-miR-27a	CLIP-seq
MIRT1966827	hsa-miR-27b	CLIP-seq
MIRT1966828	hsa-miR-3167	CLIP-seq
MIRT1966829	hsa-miR-3977	CLIP-seq
MIRT1966830	hsa-miR-4782-5p	CLIP-seq
MIRT1966831	hsa-miR-513a-5p	CLIP-seq
MIRT1966832	hsa-miR-876-5p	CLIP-seq
MIRT2447292	hsa-miR-3173-5p	CLIP-seq
MIRT2447293	hsa-miR-3200-3p	CLIP-seq
MIRT2447294	hsa-miR-4325	CLIP-seq
MIRT2447295	hsa-miR-450b-5p	CLIP-seq
MIRT2447296	hsa-miR-518a-5p	CLIP-seq
MIRT2447297	hsa-miR-527	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005221	Function	Intracellularly cyclic nucleotide-activated monoatomic cation channel activity	IEA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IBA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IDA	12815043
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IBA
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IDA	12815043
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IEA
GO:0005223	Function	Intracellularly cGMP-activated cation channel activity	IMP	24164424
GO:0005262	Function	Calcium channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12815043
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IMP	24164424
GO:0006814	Process	Sodium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007165	Process	Signal transduction	TAS	9517456
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9662398
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	TAS	9517456
GO:0016020	Component	Membrane	IEA
GO:0017022	Function	Myosin binding	IEA
GO:0017071	Component	Intracellular cyclic nucleotide activated cation channel complex	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030553	Function	CGMP binding	IBA
GO:0030553	Function	CGMP binding	IDA	37463923
GO:0030553	Function	CGMP binding	IEA
GO:0030553	Function	CGMP binding	IMP	24164424
GO:0032026	Process	Response to magnesium ion	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0045296	Function	Cadherin binding	IEA
GO:0051591	Process	Response to cAMP	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060041	Process	Retina development in camera-type eye	IBA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0097386	Component	Glial cell projection	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IBA
GO:0098659	Process	Inorganic cation import across plasma membrane	IEA
GO:1902495	Component	Transmembrane transporter complex	IDA	24164424

Other IDs

• MIM: 600053
• HGNC: 2150
• e!Ensembl: ENSG00000144191

Protein

• UniProt ID: Q16281
• Protein name: Cyclic nucleotide-gated channel alpha-3 (CNG channel alpha-3) (CNG-3) (CNG3) (Cone photoreceptor cGMP-gated channel subunit alpha-3)
• Protein function: Pore-forming subunit of the cone cyclic nucleotide-gated channel. Mediates cone photoresponses at bright light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the chan
• PDB: 3SWY, 7RHS, 8ETP, 8EU3, 8EUC, 8EV8, 8EV9, 8EVA, 8EVB, 8EVC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	168 → 411	Ion transport protein	Family
  PF00027	cNMP_binding	500 → 591	Cyclic nucleotide-binding domain	Domain
  PF16526	CLZ	598 → 668	C-terminal leucine zipper domain of cyclic nucleotide-gated channels	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Prominently expressed in retina.
• Sequence:

  MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADS
  GQGSFTGQGIARLSRLIFLLRRWAARHVHHQDQGPDSFPDRFRGAELKEVSSQESNAQAN
  VGSQEPADRGRSAWPLAKCNTNTSNNTEEEKKTKKKDAIVVDPSSNLYYRWLTAIALPVF
  YNWYLLICRACFDELQSEYLMLWLVLDYSADVLYVLDVLVRARTGFLEQGLMVSDTNRLW
  QHYKTTTQFKLDVLSLVPTDLAYLKVGTNYPEVRFNRLLKFSRLFEFFDRTETRTNYPNM
  FRIGNLVLYILIIIHWNACIYFAISKFIGFGTDSWVYPNISIPEHGRLSRKYIYSLYWST
  LTLTTIGETPPPVKDEEYLFVVVDFLVGVLIFATIVGNVGSMISNMNASRAEFQAKIDSI
  KQYMQFRKVTKDLETRVIRWFDYLWANKKTVDEKEVLKSLPDKLKAEIAINVHLDTLKKV
  RIFQDCEAGLLVELVLKLRPTVFSPGDYICKKGDIGKEMYIINEGKLAVVADDGVTQFVV
  LSDGSYFGEISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTEYPEAKKALEE
  KGRQILMKDNLIDEELARAGADPKDLEEKVEQLGSSLDTLQTRFARLLAEYNATQMKMKQ
  RLSQLESQVKGGGDKPLADGEVPGDATKTEDKQQ

• Sequence length: 694

Pathways

KEGG:

cAMP signaling pathway
Olfactory transduction

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; Pathogenic	rs552069173, rs749036398, rs141386891	RCV000504957 RCV000505144 RCV001814192	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achromatopsia	Pathogenic; Likely pathogenic	rs2104250161, rs199474697, rs104893612, rs104893614, rs104893615, rs104893617, rs104893619, rs104893620, rs104893621, rs2468060681, rs777509481, rs141386891, rs138958917, rs1553450764, rs1558811557, rs777878533, rs1558820134, rs778114016, rs1574390600, rs1464167194, rs1574391103, rs781227859, rs1692739030, rs1692898861, rs371558158	RCV001733803 RCV005417974 RCV005417428 RCV001002963 RCV001002972 RCV001002970 RCV001002968 RCV000596449 RCV000591222 RCV003319143 RCV001002957 RCV000596662 RCV000594877 RCV000594314 RCV001002959 RCV000786011 RCV000786010 RCV005418944 RCV001002961 RCV001002964 RCV001002966 RCV001002967 RCV001002971 RCV001199462 RCV001199464 RCV001199461	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia 2	Pathogenic; Likely pathogenic	rs1374130283, rs764918448, rs2104205990, rs2104206033, rs2104213507, rs2104229154, rs201713771, rs2104229884, rs2104235623, rs2104236067, rs2104245397, rs374258471, rs149802213, rs1377331975, rs2104246318, rs1311451829, rs2104246464, rs748583869, rs2104246690, rs2104246962, rs2104247562, rs571419754, rs2104248068, rs2104248132, rs2104248683, rs745592705, rs1282613813, rs2104249738, rs2104249895, rs1330420689, rs2104250058, rs2104250253, rs1386641968, rs2104175554, rs772259302, rs916035276, rs754158805, rs747447519, rs2104249119, rs199474697, rs2104229897, rs1692914478, rs1402442627, rs753625117, rs786205532, rs778373042, rs1354042829, rs776262284, rs757470958, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs552069173, rs2467029136, rs2467029530, rs2104235566, rs545114991, rs777509481, rs762773298, rs141386891, rs1553450762, rs138958917, rs1558820471, rs1558811557, rs777878533, rs1558820134, rs778114016, rs763041373, rs1574385431, rs1464167194, rs781227859, rs1330263985, rs1574390811, rs1692509021, rs749842881, rs1692921014, rs757167624, rs201782746, rs1692508715, rs761554853, rs1227761587, rs552553452, rs201747279, rs183838250, rs770713600, rs756172609, rs1692904914, rs958089715, rs1692916541, rs375928335, rs771172885	RCV001729851 RCV001729857 RCV001729880 RCV001729881 RCV001729882 RCV001729884 RCV001729885 RCV001729886 RCV001729888 RCV001729890 RCV001729891 RCV001729894 RCV001729895 RCV001729896 RCV001729897 RCV001729898 RCV001729899 RCV001729864 RCV001729865 RCV001729866 RCV001729867 RCV001729868 RCV001729869 RCV001729870 RCV001729871 RCV001587382 RCV001729872 RCV001729874 RCV001729875 RCV001729876 RCV001729877 RCV001729878 RCV004798910 RCV001725868 RCV005235616 RCV005057819 RCV002471201 RCV003388620 RCV006269522 RCV000144419 RCV002248992 RCV002248369 RCV002251195 RCV001823124 RCV003984823 RCV003329464 RCV003993686 RCV005356176 RCV005025378 RCV000010081 RCV000010082 RCV000010083 RCV000010084 RCV000010085 RCV000010086 RCV000010087 RCV000010088 RCV000010089 RCV000010090 RCV001782754 RCV003333703 RCV003389606 RCV003389607 RCV005036880 RCV000392354 RCV004587978 RCV001729643 RCV001196267 RCV001729647 RCV001270465 RCV000678542 RCV000735808 RCV005029444 RCV005253118 RCV000850497 RCV000985209 RCV000984926 RCV001002719 RCV005408639 RCV001270466 RCV003329356 RCV001029776 RCV001029799 RCV001729789 RCV001784622 RCV001729786 RCV001729790 RCV004768847 RCV001729793 RCV001270463 RCV005408683 RCV001729792 RCV001784638 RCV005036392 RCV005036516 RCV002283538 RCV001270467 RCV001270469 RCV001270468 RCV001270464 RCV001270880	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia 3	Likely pathogenic; Pathogenic	rs104893619, rs749842881	RCV005234783 RCV005235518	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CNGA3-related disorder	Pathogenic; Likely pathogenic	rs754158805, rs747447519, rs104893619, rs138958917, rs1464167194, rs201747279	RCV003408009 RCV004754820 RCV004754254 RCV004754485 RCV004754675 RCV004754686	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CNGA3-related retinopathy	Likely pathogenic; Pathogenic	rs104893619	RCV005357106	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Color vision defect	Likely pathogenic; Pathogenic	rs104893620	RCV000626801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Pathogenic	rs117522010, rs1692799480	RCV000504772 RCV001199463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic	rs2467029031, rs2467028405, rs1464167194	RCV003324688 RCV003324690 RCV002267757	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular degeneration	Likely pathogenic; Pathogenic	rs104893620	RCV000626801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Pathogenic	rs141386891	RCV000678541	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
maculopathy	Likely pathogenic	rs375152706	RCV001002960	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monochromacy	Likely pathogenic; Pathogenic	rs104893613, rs104893617	RCV000415133 RCV000415000	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Likely pathogenic; Pathogenic	rs104893620	RCV004814872	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Photophobia	Likely pathogenic; Pathogenic	rs104893620	RCV000626801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs764918448, rs2104236067, rs2104250058, rs1692740329, rs2104250161, rs747447519, rs1354042829, rs757470958, rs878853359, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs552069173, rs1325419198, rs141386891, rs138958917, rs777878533, rs374258471, rs778114016, rs749842881, rs201782746, rs1692508715, rs761554853, rs762668060, rs943314733, rs1227761587, rs552553452, rs1692915919, rs779023431, rs1692928194, rs1692930941, rs201747279, rs183838250	RCV004815468 RCV004815493 RCV004815491 RCV004815519 RCV004815613 RCV004816831 RCV004817072 RCV000225523 RCV000225636 RCV004814869 RCV004794328 RCV001075581 RCV001074603 RCV001075211 RCV001074686 RCV001075289 RCV004814870 RCV004814871 RCV001075358 RCV001074992 RCV004818374 RCV001075180 RCV001074687 RCV001074832 RCV001073600 RCV001073764 RCV001074971 RCV001074829 RCV001074037 RCV001074653 RCV001073423 RCV001075212 RCV001074652 RCV001073683 RCV001074460 RCV001075609 RCV001074198 RCV001073296 RCV001075604 RCV001075514	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR BLINDNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DEFECTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE ACHROMATOPSIA	—	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
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	BEFREE	10958649, 11536077, 12461695, 15712225, 16319819, 16961972, 17265047, 18445228, 18521937, 18636117, 20238023, 20454696, 20506298, 20549516, 21107338, 21268679, 21911670, 21912902, 22509403, 23362848, 23552282, 24676353, 24903488, 25052312, 25277229, 25616768, 25637600, 25855802, 26087757, 26407004, 27040408, 27718025, 28159970, 28241315, 28282490, 28478700, 28596720, 28970046, 29131863, 29499183, 29926749, 30187779, 30267408, 30682209, 30711023, 30864850, 31237654		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia	Achromatopsia	CLINVAR_DG	11536077, 14757870, 15712225, 16961972, 17693388, 18445228, 20079539, 21778272, 23972307, 24903488, 25616768, 25943428, 26992781, 28341476		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia	Achromatopsia	CTD_human_DG	30418171		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia	Achromatopsia	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia	Achromatopsia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia	Achromatopsia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia	Achromatopsia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia 2	Achromatopsia	CLINVAR_DG	11536077, 14757870, 15712225, 17693388, 18445228, 18521937, 21778272, 24148654, 25168900, 25616768, 25637600, 26407004, 26992781, 29099798, 9662398		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia 2	Achromatopsia	UNIPROT_DG	11536077, 14757870, 15712225, 15743887, 18521937, 24903488, 26493561, 9662398		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia 2	Achromatopsia	BEFREE	12187427, 15980212, 25855802, 31290651		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia 2	Achromatopsia	GENOMICS_ENGLAND_DG	24504161		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia 2	Achromatopsia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achromatopsia 3	Achromatopsia	BEFREE	12187427		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	21901789		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	35456423	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28350845	Associate	★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	18445228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Color blindness	Color Blindness	CTD_human_DG	30418171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Color Blindness, Acquired	Color blindness	CTD_human_DG	30418171		★☆☆☆☆ Found in Text Mining only
Color Blindness, Blue	Color blindness	CTD_human_DG	30418171		★☆☆☆☆ Found in Text Mining only
Color Blindness, Inherited	Color blindness	CTD_human_DG	30418171		★☆☆☆☆ Found in Text Mining only
Color Blindness, Red	Color blindness	CTD_human_DG	30418171		★☆☆☆☆ Found in Text Mining only
Color Blindness, Red-Green	Color blindness	CTD_human_DG	30418171		★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	12205108, 14715947, 18636117, 20454696, 22901948, 24504161, 24676353, 25052312, 25277229, 26493561, 29618791, 31237654, 32352493, 32832242, 32913385, 34360608, 34703197, 35233102, 35456423, 35704304, 35930270, 35998912, 36801918, 36833446, 36980963, 37372476, 37433300, 37689994, 37847226	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone Dystrophy	Cone dystrophy	Pubtator	12205108, 25052312, 35456423	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone Dystrophy	Cone Dystrophy	CLINVAR_DG	18521937		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone Dystrophy	Cone Dystrophy	BEFREE	24903488, 25052312, 30418171, 30711023		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone monochromatism	Cone monochromatism	BEFREE	12205108, 24676353		★☆☆☆☆ Found in Text Mining only
Cone monochromatism	Cone monochromatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	24903488, 25052312, 30711023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	25052312, 30711023		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	25052312		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	24504161		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	28596720		★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	32352493	Associate	★☆☆☆☆ Found in Text Mining only
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	BEFREE	12187427		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37100462	Associate	★☆☆☆☆ Found in Text Mining only
Hemeralopia	Hemeralopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	21901789, 25052312	Associate	★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	24903488, 25052312		★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor neuron atrophy	Motor neuron atrophy	BEFREE	20530642		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	35456423	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28358923		★☆☆☆☆ 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	BEFREE	18445228		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	34703197	Associate	★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive Cone Dystrophy	Cone Dystrophy	BEFREE	11536077, 12205108, 15743887, 20079539, 20238023		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	35456422	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	21901789, 31877759, 32423767	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29499183, 30418171, 30711023		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	12205108		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	25052312, 30267408, 30711023		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	32352493	Associate	★☆☆☆☆ Found in Text Mining only