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G |
ATF6 |
activating transcription factor 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26029869 |
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NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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G |
BDNF |
brain derived neurotrophic factor |
susceptibility |
IAGP |
associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) |
RGD |
PMID:21640793 |
RGD:8655850 |
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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G |
CNGA3 |
cyclic nucleotide gated channel subunit alpha 3 |
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IAGP EXP |
ClinVar Annotator: match by term: Color vision defect CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:11536077 PMID:17693388 PMID:20238023 PMID:25741868 PMID:26992781 PMID:28492532 PMID:30418171 PMID:11536077 More...
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RGD:734792 |
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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G |
CNGB3 |
cyclic nucleotide gated channel subunit beta 3 |
susceptibility |
IAGP EXP |
DNA:mutations CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30418171 PMID:10958649 |
RGD:1600870 |
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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G |
DMD |
dystrophin |
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IAGP |
ClinVar Annotator: match by term: Color vision defect |
ClinVar |
PMID:16199547 PMID:16770791 PMID:19937601 PMID:25007885 PMID:27234031 PMID:28492532 PMID:30827497 PMID:34106991 More...
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NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
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G |
GNAT2 |
G protein subunit alpha transducin 2 |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12077706 PMID:12077706 |
RGD:1599034 |
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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G |
PDE6H |
phosphodiesterase 6H |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25739440 |
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NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865
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G |
ATF6 |
activating transcription factor 6 |
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IAGP |
ClinVar Annotator: match by term: Achromatopsia |
ClinVar |
PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 PMID:28041643 PMID:28492532 More...
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NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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G |
CABP4 |
calcium binding protein 4 |
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IAGP |
ClinVar Annotator: match by term: Achromatopsia |
ClinVar |
PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 PMID:29525873 PMID:29706639 PMID:30718709 More...
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NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752
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G |
CNGA3 |
cyclic nucleotide gated channel subunit alpha 3 |
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IAGP |
ClinVar Annotator: match by term: Achromatopsia |
ClinVar |
PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 PMID:16961972 PMID:17265047 PMID:17576681 PMID:17693388 PMID:18445228 PMID:18521937 PMID:20079539 PMID:20088482 PMID:20238023 PMID:20506298 PMID:20549516 PMID:21778272 PMID:22995991 PMID:23972307 PMID:24033266 PMID:24148654 PMID:24504161 PMID:24903488 PMID:25168900 PMID:25616768 PMID:25637600 PMID:25741868 PMID:25943428 PMID:26036949 PMID:26992781 PMID:27535533 PMID:27820752 PMID:28159970 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29053603 PMID:29618791 PMID:30418171 PMID:30653986 PMID:30682209 PMID:30711023 PMID:31456290 PMID:32913385 PMID:35119454 PMID:36259723 PMID:36909829 More...
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NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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G |
CNGB3 |
cyclic nucleotide gated channel subunit beta 3 |
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IAGP |
ClinVar Annotator: match by term: Achromatopsia |
ClinVar |
PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 PMID:12187429 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15459792 PMID:15657609 PMID:15712225 PMID:16199547 PMID:16319819 PMID:16379026 PMID:17265047 PMID:17576681 PMID:17652762 PMID:19592100 PMID:20079539 PMID:22264887 PMID:22975760 PMID:22995991 PMID:23776498 PMID:23805033 PMID:24033266 PMID:24148654 PMID:24504161 PMID:25205868 PMID:25326637 PMID:25474149 PMID:25525159 PMID:25558176 PMID:25616768 PMID:25741868 PMID:25770143 PMID:26106334 PMID:26992781 PMID:27479814 PMID:27874104 PMID:28005958 PMID:28041643 PMID:28224992 PMID:28418496 PMID:28492532 PMID:28795510 PMID:29186038 PMID:29769798 PMID:30418171 PMID:30718709 PMID:31456290 PMID:31544997 PMID:32860008 PMID:32869108 PMID:32913385 PMID:33546218 PMID:34703197 PMID:35119454 PMID:36909829 More...
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NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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G |
GNAT2 |
G protein subunit alpha transducin 2 |
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IAGP ISS |
ClinVar Annotator: match by term: Achromatopsia |
ClinVar MouseDO |
PMID:12077706 PMID:25741868 PMID:28492532 PMID:31058429 PMID:31144483 |
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NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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G |
OPA3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
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IAGP |
ClinVar Annotator: match by term: Achromatopsia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212
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G |
OPN1MW |
opsin 1, medium wave sensitive |
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IAGP |
ClinVar Annotator: match by term: Achromatopsia |
ClinVar |
PMID:25741868 |
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NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
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G |
PDE6C |
phosphodiesterase 6C |
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IAGP ISS |
ClinVar Annotator: match by term: Achromatopsia |
ClinVar MouseDO |
PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 PMID:19615668 PMID:19887631 PMID:23776498 PMID:25741868 PMID:26103963 PMID:28041643 PMID:28492532 PMID:28704108 PMID:30080950 PMID:33001157 PMID:33546218 More...
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NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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G |
CNGA3 |
cyclic nucleotide gated channel subunit alpha 3 |
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IAGP |
DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human) ClinVar Annotator: match by term: Rod monochromatism |
ClinVar RGD |
PMID:9662398 PMID:11536077 PMID:14757870 PMID:17693388 PMID:23972307 PMID:25741868 PMID:28492532 PMID:30418171 PMID:30682209 PMID:32913385 PMID:18521937 More...
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RGD:9068452 |
NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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G |
CNGB3 |
cyclic nucleotide gated channel subunit beta 3 |
treatment |
IAGP IMP ISO |
DNA:deletion: :c.1148delC (human) ClinVar Annotator: match by term: Rod monochromatism |
ClinVar RGD |
PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:22975760 PMID:22995991 PMID:23776498 PMID:23805033 PMID:24033266 PMID:24504161 PMID:25474149 PMID:25741868 PMID:25770143 PMID:26106334 PMID:28041643 PMID:28418496 PMID:28492532 PMID:28795510 PMID:30418171 PMID:30718709 PMID:32860008 PMID:32869108 PMID:33546218 PMID:36909829 PMID:17265047 PMID:21576125 PMID:21576125 More...
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RGD:9068446, RGD:9068450, RGD:9068450 |
NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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G |
CNGA3 |
cyclic nucleotide gated channel subunit alpha 3 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Achromatopsia 2 ClinVar Annotator: match by term: Rod monochromacy 2 OMIM:216900 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 PMID:15712225 PMID:15743887 PMID:15980212 PMID:16199547 PMID:16961972 PMID:17265047 PMID:17576681 PMID:17693388 PMID:18445228 PMID:18521937 PMID:20079539 PMID:20088482 PMID:20238023 PMID:20506298 PMID:20549516 PMID:21268679 PMID:21778272 PMID:21901789 PMID:21912902 PMID:22995991 PMID:23972307 PMID:24033266 PMID:24148654 PMID:24504161 PMID:24676353 PMID:24903488 PMID:24906859 PMID:25052312 PMID:25168900 PMID:25616768 PMID:25637600 PMID:25741868 PMID:25943428 PMID:26036949 PMID:26106334 PMID:26355662 PMID:26407004 PMID:26493561 PMID:26992781 PMID:27208204 PMID:27535533 PMID:27820752 PMID:28041643 PMID:28159970 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29053603 PMID:29099798 PMID:29165669 PMID:29618791 PMID:30289319 PMID:30337596 PMID:30418171 PMID:30653986 PMID:30682209 PMID:30711023 PMID:31456290 PMID:32531858 PMID:32783370 PMID:32913385 PMID:33546218 PMID:35119454 PMID:35332618 PMID:36259723 PMID:36980963 More...
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NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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G |
CNGB3 |
cyclic nucleotide gated channel subunit beta 3 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Achromatopsia 3 ClinVar Annotator: match by term: Total colorblindness with myopia OMIM:262300 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 PMID:12187429 PMID:12357335 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15223812 PMID:15459792 PMID:15657609 PMID:15712225 PMID:16199547 PMID:16319819 PMID:16379026 PMID:17265047 PMID:17576681 PMID:17652762 PMID:19592100 PMID:20079539 PMID:20574029 PMID:22264887 PMID:22975760 PMID:22995991 PMID:23776498 PMID:23805033 PMID:24033266 PMID:24148654 PMID:24504161 PMID:25205868 PMID:25474149 PMID:25525159 PMID:25558076 PMID:25558176 PMID:25616768 PMID:25741868 PMID:25770143 PMID:26106334 PMID:26992781 PMID:27479814 PMID:27874104 PMID:28005958 PMID:28041643 PMID:28224992 PMID:28341476 PMID:28418496 PMID:28492532 PMID:28795510 PMID:29053603 PMID:29186038 PMID:29769798 PMID:30337596 PMID:30418171 PMID:30718709 PMID:31544997 PMID:32581362 PMID:32860008 PMID:32869108 PMID:32913385 PMID:33546218 PMID:34703197 PMID:35119454 PMID:35672425 PMID:36909829 More...
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NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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G |
GNAT2 |
G protein subunit alpha transducin 2 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Achromatopsia 4 OMIM:613856 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:21107338 PMID:25741868 PMID:27208204 PMID:28492532 PMID:31058429 PMID:31144483 More...
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NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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G |
LOC129388577 |
MPRA-validated peak357 silencer |
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IAGP |
ClinVar Annotator: match by term: Achromatopsia 4 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31058429 |
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NCBI chr 1:109,605,893...109,606,093
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G |
PDE6C |
phosphodiesterase 6C |
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IAGP |
ClinVar Annotator: match by term: Achromatopsia 5 |
ClinVar |
PMID:16199547 PMID:19615668 PMID:19887631 PMID:21127010 PMID:23776498 PMID:25741868 PMID:26103963 PMID:28492532 PMID:30080950 More...
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NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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G |
ATF6 |
activating transcription factor 6 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Achromatopsia 7 OMIM:616517 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:24824130 PMID:25741868 PMID:26029869 PMID:26063662 PMID:26070061 PMID:28028229 PMID:28492532 More...
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NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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G |
OPN1SW |
opsin 1, short wave sensitive |
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IAGP EXP |
ClinVar Annotator: match by term: Blue color blindness CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tritanopia |
OMIM ClinVar CTD |
PMID:1386496 PMID:1531728 PMID:2937147 PMID:25741868 PMID:28492532 PMID:31816670 More...
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NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794
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G |
LOC125467793 |
Sharpr-MPRA regulatory region 3572 |
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IAGP |
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type |
ClinVar |
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NCBI chr X:154,136,674...154,136,968
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G |
OPN1LW |
opsin 1, long wave sensitive |
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IAGP EXP |
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY ClinVar Annotator: match by term: Blue cone monochromacy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type |
ClinVar CTD OMIM |
PMID:1881435 PMID:8666378 PMID:8792812 PMID:15094734 PMID:25741868 |
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NCBI chr X:154,144,243...154,159,032
Ensembl chr X:154,144,243...154,159,032
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G |
OPN1MW |
opsin 1, medium wave sensitive |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Cone dystrophy 5, X-linked OMIM:303700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blue cone monochromacy ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY |
ClinVar MouseDO CTD OMIM |
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 PMID:19421413 PMID:20579627 More...
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NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
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G |
OPSIN-LCR |
opsin locus control region |
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IAGP |
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type |
ClinVar |
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NCBI chr X:154,137,727...154,144,286
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G |
OPN1LW |
opsin 1, long wave sensitive |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Protan defect |
OMIM CTD ClinVar |
PMID:8666378 PMID:12051694 PMID:15094734 PMID:25741868 |
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NCBI chr X:154,144,243...154,159,032
Ensembl chr X:154,144,243...154,159,032
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G |
OPN1MW |
opsin 1, medium wave sensitive |
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IAGP EXP |
ClinVar Annotator: match by term: Colorblindness, partial, deutan series CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DEUTERANOPIA |
ClinVar CTD OMIM |
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:12051694 PMID:12626747 PMID:15094734 PMID:19421413 More...
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NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
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G |
OPN1MW2 |
opsin 1, medium wave sensitive 2 |
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IAGP |
ClinVar Annotator: match by term: Deuteranopia |
ClinVar |
PMID:25741868 |
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NCBI chr X:154,219,756...154,233,286
Ensembl chr X:154,219,756...154,233,286
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