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G |
Cimip3 |
ciliary microtubule inner protein 3 |
|
ISO |
autosomal dominant cone dystrophy 3, OMIM:602093 DNA:point mutation:exon:A319G -> amino acid Y99C |
RGD |
PMID:9425234 |
RGD:1599353 |
NCBI chr 9:13,560,669...13,582,987
Ensembl chr 9:13,560,876...13,582,814
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
susceptibility |
ISO |
Knobloch syndrome, OMIM:267750;DNA:deletion: :c.3514delCT |
RGD |
PMID:12415512 |
RGD:1600885 |
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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G |
Ctns |
cystinosin, lysosomal cystine transporter |
treatment |
ISO |
associated with Cystinosis;human gene in a mouse model |
RGD |
PMID:26540660 |
RGD:11354731 |
NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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|
G |
Guca1a |
guanylate cyclase activator 1A |
|
ISO |
autosomal dominant cone dystrophy 3, OMIM:602093 |
RGD |
PMID:9425234 |
RGD:1599353 |
NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19668215 |
|
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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|
G |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16968212 |
|
NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
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|
G |
Lrp2 |
LDL receptor related protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632512 |
|
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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|
G |
Ndp |
norrin cystine knot growth factor NDP |
|
ISO |
Norrie Disease, OMIM:310600, DNA:point mutations:exon |
RGD |
PMID:1303235 |
RGD:1600222 |
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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|
G |
Plk4 |
polo-like kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25344692 |
|
NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942
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|
G |
Rgs9 |
regulator of G-protein signaling 9 |
|
ISO |
DNA:mutation |
RGD |
PMID:14702087 |
RGD:1599999 |
NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
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|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16968212 |
|
NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16968212 |
|
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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|
G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
susceptibility |
ISO |
protein:mutation: ; Y172C; Sorsby fundus dystrophy, OMIM:136900 |
RGD |
PMID:9400791 |
RGD:1600153 |
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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|
|
G |
Gnai3 |
G protein subunit alpha i3 |
|
ISO |
ClinVar Annotator: match by term: Achromatopsia 4 |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:195,742,765...195,780,720
Ensembl chr 2:195,742,642...195,780,742
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|
G |
Gnat2 |
G protein subunit alpha transducin 2 |
|
ISO ISS |
OMIM:613856 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Achromatopsia 4 |
OMIM MouseDO CTD ClinVar |
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 2:195,726,371...195,735,866
Ensembl chr 2:195,726,762...195,735,866
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G |
Pde6c |
phosphodiesterase 6C |
|
ISO |
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 chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
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G |
Arx |
aristaless related homeobox |
|
ISO |
ClinVar Annotator: match by term: Aicardi syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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|
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G |
Aamp |
angio-associated, migratory cell protein |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
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G |
Abcb6 |
ATP binding cassette subfamily B member 6 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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|
G |
Ankzf1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469
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G |
Arpc2 |
actin related protein 2/3 complex, subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
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G |
Asic4 |
acid sensing ion channel subunit family member 4 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
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G |
Atg9a |
autophagy related 9A |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986
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|
G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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G |
Catip |
ciliogenesis associated TTC17 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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G |
Cdk5r2 |
cyclin-dependent kinase 5 regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
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G |
Cfap65 |
cilia and flagella associated protein 65 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
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G |
Chpf |
chondroitin polymerizing factor |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
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G |
Cnot9 |
CCR4-NOT transcription complex subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
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G |
Cnppd1 |
cyclin Pas1/PHO80 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
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G |
Cryba2 |
crystallin, beta A2 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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G |
Ctdsp1 |
CTD small phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
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G |
Cxcr1 |
C-X-C motif chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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G |
Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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G |
Dnpep |
aspartyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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G |
Fev |
FEV transcription factor, ETS family member |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
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G |
Glb1l |
galactosidase, beta 1-like |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
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G |
Gmppa |
GDP-mannose pyrophosphorylase A |
|
ISO ISS |
OMIM:615510 ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
OMIM MouseDO ClinVar |
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478 |
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NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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G |
Gpbar1 |
G protein-coupled bile acid receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
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G |
Ihh |
Indian hedgehog signaling molecule |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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G |
Mir26b |
microRNA 26b |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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G |
Mir375 |
microRNA 375 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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G |
Nhej1 |
nonhomologous end-joining factor 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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G |
Obsl1 |
obscurin like cytoskeletal adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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G |
Plcd4 |
phospholipase C, delta 4 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
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G |
Pnkd |
PNKD metallo-beta-lactamase domain containing |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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G |
Prkag3 |
protein kinase AMP-activated non-catalytic subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
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|
G |
Ptprn |
protein tyrosine phosphatase, receptor type, N |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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G |
Resp18 |
regulated endocrine-specific protein 18 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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|
G |
Retreg2 |
reticulophagy regulator family member 2 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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G |
Rnf25 |
ring finger protein 25 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Slc23a3 |
solute carrier family 23, member 3 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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G |
Speg |
striated muscle enriched protein kinase |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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G |
Stk16 |
serine/threonine kinase 16 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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G |
Stk36 |
serine/threonine kinase 36 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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G |
Tmbim1 |
transmembrane BAX inhibitor motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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G |
Tmem198 |
transmembrane protein 198 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
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G |
Ttll4 |
tubulin tyrosine ligase like 4 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
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G |
Tuba4a |
tubulin, alpha 4A |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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G |
Usp37 |
ubiquitin specific peptidase 37 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
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G |
Vil1 |
villin 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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G |
Wnt10a |
Wnt family member 10A |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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G |
Wnt6 |
Wnt family member 6 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
|
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G |
Zfand2b |
zinc finger AN1-type containing 2B |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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G |
Zfp142 |
zinc finger protein 142 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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G |
Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:30718709 |
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NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II CTD Direct Evidence: marker/mechanism DNA:deletion:exon: |
OMIM ClinVar CTD RGD |
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22183355 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:28838317 PMID:30718709 PMID:30825406 PMID:17525176 More...
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RGD:13782379 |
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Whrn |
whirlin |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:28492532 PMID:30718709 |
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NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
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G |
Dct |
dopachrome tautomerase |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:33100333 |
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NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
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G |
Gpr143 |
G protein-coupled receptor 143 |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:8634705 PMID:11115845 PMID:11214907 PMID:26785811 PMID:28041643 PMID:28492532 PMID:32581362 More...
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NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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G |
Oca2 |
OCA2 melanosomal transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:19060277 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28667292 PMID:28976636 PMID:29345414 PMID:32741191 More...
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NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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G |
Tyr |
tyrosinase |
treatment |
ISO IMP |
DNA:missense mutation:cds:p.H420R(mouse) ClinVar Annotator: match by term: Albinism |
ClinVar RGD |
PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1903591 PMID:1970634 PMID:2903492 PMID:7704033 PMID:7849740 PMID:7955413 PMID:8434585 PMID:9158138 PMID:9163730 PMID:10766867 PMID:10987646 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:16517127 PMID:17952075 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20301345 PMID:20861488 PMID:21541274 PMID:22294196 PMID:23504663 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25741868 PMID:25919014 PMID:27734839 PMID:28041643 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28976636 PMID:29345414 PMID:30472657 PMID:31077556 PMID:33223529 PMID:34008892 PMID:34897530 PMID:35803923 PMID:2567165 PMID:23409244 PMID:2112453 More...
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RGD:8694353, RGD:12792973, RGD:8694355 |
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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G |
Tyrem1Kyo |
tyrosinase; TALEN induced mutant1, Kyo |
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IMP |
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RGD |
PMID:23409244 |
RGD:12792973 |
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G |
Tyrp1 |
tyrosinase-related protein 1 |
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ISO |
ClinVar Annotator: match by term: Albinism |
ClinVar |
PMID:8651291 PMID:9345097 PMID:16199547 PMID:25741868 PMID:28041643 PMID:28492532 More...
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NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
susceptibility |
ISO ISS |
DNA:frameshift mutations, nonsense mutations ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome OMIM:203800 CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutations, missense mutations:multiple DNA:nonsense mutations, frameshift mutation, missense mutation:multiple |
ClinVar MouseDO CTD OMIM RGD |
PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 PMID:15689433 PMID:16199547 PMID:16720663 PMID:17576681 PMID:17594715 PMID:17850632 PMID:18038714 PMID:18154657 PMID:18195218 PMID:18414213 PMID:18654604 PMID:19283855 PMID:19763152 PMID:20307669 PMID:21128906 PMID:21157496 PMID:21158358 PMID:21541333 PMID:21877133 PMID:21897446 PMID:21901789 PMID:21943378 PMID:22406018 PMID:22447358 PMID:22498418 PMID:22533542 PMID:22555271 PMID:22773737 PMID:22876109 PMID:23033341 PMID:23188138 PMID:23661369 PMID:23847139 PMID:24033266 PMID:24049434 PMID:24257694 PMID:24400638 PMID:24462884 PMID:24503146 PMID:24534407 PMID:24595103 PMID:24690487 PMID:24830966 PMID:25268133 PMID:25296579 PMID:25468891 PMID:25469153 PMID:25533962 PMID:25640679 PMID:25706677 PMID:25741868 PMID:25846608 PMID:25864795 PMID:25999675 PMID:26010121 PMID:26047050 PMID:26066530 PMID:26077327 PMID:26082521 PMID:26104972 PMID:26111748 PMID:26239645 PMID:26283575 PMID:26285675 PMID:26467025 PMID:26496393 PMID:26566502 PMID:26633542 PMID:26636822 PMID:26704672 PMID:26992781 PMID:27178444 PMID:27375279 PMID:27486776 PMID:27523285 PMID:27665122 PMID:28112973 PMID:28145517 PMID:28402684 PMID:28432734 PMID:28456785 PMID:28492532 PMID:28502102 PMID:28518168 PMID:28573831 PMID:28717663 PMID:28724398 PMID:28912962 PMID:29079548 PMID:29193673 PMID:29302074 PMID:29345162 PMID:29588463 PMID:29590070 PMID:29610177 PMID:29681726 PMID:29715191 PMID:29718281 PMID:29961767 PMID:29970176 PMID:29976977 PMID:30029497 PMID:30054919 PMID:30064963 PMID:30311386 PMID:30421101 PMID:30488743 PMID:30513137 PMID:30532227 PMID:30600744 PMID:31106028 PMID:31308072 PMID:31456290 PMID:31607746 PMID:31624253 PMID:31630094 PMID:31638414 PMID:31755649 PMID:31810438 PMID:31898538 PMID:32037395 PMID:32349990 PMID:32396277 PMID:32451492 PMID:32461654 PMID:32483926 PMID:32503575 PMID:32531858 PMID:32531870 PMID:32581362 PMID:32682410 PMID:32746448 PMID:32856788 PMID:32867697 PMID:32944671 PMID:32945434 PMID:32973878 PMID:33179747 PMID:33502066 PMID:33669459 PMID:33782391 PMID:33924909 PMID:33981653 PMID:34147365 PMID:34148116 PMID:34148947 PMID:34547244 PMID:34716235 PMID:34906470 PMID:34935411 PMID:35211159 PMID:35786123 PMID:36109815 PMID:36162988 PMID:36178741 PMID:36252119 PMID:36413997 PMID:36460718 PMID:36685911 PMID:37321834 PMID:11941369 PMID:16720663 PMID:22876109 PMID:16000322 PMID:16513793 More...
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RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 |
NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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G |
Cct7 |
chaperonin containing TCP1 subunit 7 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:30250467 More...
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NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Egr4 |
early growth response 4 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
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G |
Emx1 |
empty spiracles homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613
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G |
Fbxo41 |
F-box protein 41 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406
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G |
Noto |
notochord homeobox |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402
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G |
Pradc1 |
protease-associated domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886
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G |
Rab11fip5 |
RAB11 family interacting protein 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741
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G |
Sfxn5 |
sideroflexin 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794
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G |
Smyd5 |
SMYD family member 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347
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G |
Spr |
sepiapterin reductase |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
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G |
Tango2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Alstrom's syndrome |
ClinVar |
PMID:23975875 PMID:25589632 PMID:28492532 |
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
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G |
Alpk1 |
alpha-kinase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
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G |
Ank2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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G |
Ap1ar |
adaptor-related protein complex 1 associated regulatory protein |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013
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G |
Arsj |
arylsulfatase family, member J |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:214,774,631...214,854,614
Ensembl chr 2:214,774,654...214,854,612
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G |
Camk2d |
calcium/calmodulin-dependent protein kinase II delta |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178
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G |
Dcdc1-ps1 |
doublecortin domain containing 1, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 3:92,486,054...92,896,696
Ensembl chr 3:92,718,047...92,896,542
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G |
Dnajc24 |
DnaJ heat shock protein family (Hsp40) member C24 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital aniridia |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Fam241a |
family with sequence similarity 241 member A |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242
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G |
Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Glis3 |
GLIS family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
PMID:26893459 |
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NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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G |
Gmds |
GDP-mannose 4, 6-dehydratase |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr17:32,095,315...32,621,975
Ensembl chr17:32,095,386...32,621,961
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G |
Immp1l |
inner mitochondrial membrane peptidase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 3:92,385,329...92,449,559
Ensembl chr 3:92,385,379...92,452,313
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G |
Kif21a |
kinesin family member 21A |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
PMID:26893459 |
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NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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G |
Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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G |
Neurog2 |
neurogenin 2 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154
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G |
Pax6 |
paired box 6 |
susceptibility |
ISO ISS |
DNA:mutations:exon, intron:multiple (human) OMIM:106210 ClinVar Annotator: match by term: Aniridia, atypical | ClinVar Annotator: match by term: Congenital aniridia CTD Direct Evidence: marker/mechanism associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human) DNA:frameshift mutation:cds:p.P418SfsX87 (human) associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse) DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human) DNA:nonsense mutation:cds:p.R240X (human) DNA:deletion:cds:p.Q297HfsX68 (human) DNA:deletion:cds:p.R38PfsX12 (human) DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human) |
MouseDO ClinVar CTD RGD |
PMID:9931324 PMID:14744876 PMID:17417613 PMID:18322702 PMID:18776953 PMID:25741868 PMID:27013732 PMID:28492532 PMID:30221735 PMID:9138149 PMID:25366758 PMID:22550392 PMID:22393272 PMID:16080917 PMID:16303964 PMID:19862335 PMID:22815628 PMID:22171157 PMID:20664694 PMID:23734086 More...
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RGD:1601209, RGD:12790966, RGD:8552301, RGD:8552277, RGD:8552246, RGD:8551879, RGD:8551870, RGD:8551860, RGD:8551859, RGD:8551858, RGD:8551856 |
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Sox2 |
SRY-box transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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G |
Tifa |
TRAF-interacting protein with forkhead-associated domain |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841
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G |
Trim44 |
tripartite motif-containing 44 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:88,593,619...88,729,085
Ensembl chr 3:88,592,719...88,729,188
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G |
Wt1 |
WT1 transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Zgrf1 |
zinc finger, GRF-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Congenital aniridia |
ClinVar |
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NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
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G |
Dcdc1-ps1 |
doublecortin domain containing 1, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
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NCBI chr 3:92,486,054...92,896,696
Ensembl chr 3:92,718,047...92,896,542
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G |
Dnajc24 |
DnaJ heat shock protein family (Hsp40) member C24 |
|
ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
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NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:8364574 PMID:10234503 PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:15150775 PMID:16098226 PMID:17630404 PMID:18483559 PMID:19218613 PMID:22361317 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 PMID:27381094 PMID:27431685 PMID:28231309 PMID:28321846 PMID:28492532 PMID:29618921 PMID:30291432 More...
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Immp1l |
inner mitochondrial membrane peptidase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
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NCBI chr 3:92,385,329...92,449,559
Ensembl chr 3:92,385,379...92,452,313
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G |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 | ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy |
OMIM ClinVar |
PMID:1251879 PMID:1302030 PMID:1345175 PMID:1684738 PMID:1954207 PMID:2080308 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9279758 PMID:9281415 PMID:9452088 PMID:9482572 PMID:9536098 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10477494 PMID:10694925 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12388550 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12782766 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15020706 PMID:15086958 PMID:15150775 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16199547 PMID:16493447 PMID:16617299 PMID:16712695 PMID:16785853 PMID:16803629 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17576681 PMID:17595013 PMID:17630404 PMID:17893655 PMID:18241071 PMID:18332330 PMID:18414213 PMID:18483559 PMID:18776953 PMID:19218613 PMID:19862335 PMID:19876904 PMID:19898691 PMID:20054790 PMID:20577777 PMID:21397818 PMID:21423868 PMID:21848007 PMID:21850189 PMID:22171686 PMID:22361317 PMID:22393275 PMID:22509105 PMID:22692063 PMID:22893676 PMID:23404109 PMID:23517654 PMID:23734086 PMID:23761016 PMID:23942204 PMID:24138039 PMID:24266705 PMID:24281366 PMID:24390526 PMID:24623969 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26535646 PMID:26604670 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27013732 PMID:27081502 PMID:27081561 PMID:27124303 PMID:27307692 PMID:27381094 PMID:27431685 PMID:27455012 PMID:27463523 PMID:27878435 PMID:28018434 PMID:28231309 PMID:28321846 PMID:28488383 PMID:28492532 PMID:28559085 PMID:29145603 PMID:29217025 PMID:29618921 PMID:29780932 PMID:29914532 PMID:30167917 PMID:30291432 PMID:30315214 PMID:30986449 PMID:31161946 PMID:31700164 PMID:32080308 PMID:32214788 PMID:32360764 PMID:32467297 PMID:32857266 PMID:32860008 PMID:32883240 PMID:33169869 PMID:34101622 PMID:34174135 PMID:34415986 PMID:34942114 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Rcn1 |
reticulocalbin 1 |
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ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
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G |
Wt1 |
WT1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8810912 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9745866 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10762296 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12471221 PMID:12970737 PMID:15150775 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16932893 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18618575 PMID:19205749 PMID:19221039 PMID:20106868 PMID:20442690 PMID:20595692 PMID:21125408 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 PMID:23117548 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24728327 PMID:24856380 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25501161 PMID:25623218 PMID:25720465 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:26661695 PMID:26882358 PMID:27013732 PMID:27124303 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28780565 PMID:29474669 PMID:30406062 PMID:30721404 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:33226606 PMID:34386660 PMID:34490048 PMID:35904974 More...
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Aniridia 2 |
OMIM ClinVar |
PMID:25741868 PMID:26010655 PMID:28492532 |
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Trim44 |
tripartite motif-containing 44 |
|
ISO |
ClinVar Annotator: match by term: Aniridia 3 |
OMIM ClinVar |
PMID:25741868 PMID:26394807 |
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NCBI chr 3:88,593,619...88,729,085
Ensembl chr 3:88,592,719...88,729,188
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G |
Pik3r5 |
phosphoinositide-3-kinase, regulatory subunit 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 |
OMIM ClinVar |
PMID:22065524 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33116287 |
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NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 |
OMIM ClinVar |
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:23833122 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:27125728 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:30398534 PMID:31061747 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32056211 PMID:32347949 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:35354845 More...
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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G |
Best1 |
bestrophin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VRCP autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10798642 PMID:10854112 PMID:11585313 PMID:12543751 PMID:13534955 PMID:14615048 PMID:15452077 PMID:17065513 PMID:17576681 PMID:18289629 PMID:18611979 PMID:19853238 PMID:21072067 PMID:21436265 PMID:21825197 PMID:23213274 PMID:24560797 PMID:25741868 PMID:25999674 PMID:26771239 PMID:28225368 PMID:28492532 PMID:28559085 PMID:28687848 PMID:29215532 PMID:29555955 PMID:29844330 PMID:30718709 PMID:31263784 PMID:33546218 PMID:34061021 More...
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NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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G |
Fth1 |
ferritin heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VRCP autosomal dominant |
ClinVar |
PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 |
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NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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G |
Cdk13 |
cyclin-dependent kinase 13 |
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ISO |
ClinVar Annotator: match by term: Wolfram-like disorder |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33879837 |
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NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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G |
Wfs1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:19877185 PMID:20028947 PMID:20069065 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:23373429 PMID:23429432 PMID:23981289 PMID:24033266 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30577886 PMID:30773290 PMID:31264968 PMID:31313226 PMID:31343797 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34356170 PMID:34445196 PMID:34556497 PMID:34746052 PMID:34837038 PMID:35206658 PMID:35469785 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 PMID:37508961 PMID:37510321 More...
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NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G |
Cfh |
complement factor H |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED |
CTD OMIM ClinVar |
PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 PMID:11158219 PMID:11170896 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14978182 PMID:15761120 PMID:15761121 PMID:15761122 PMID:15870199 PMID:15895326 PMID:16229850 PMID:16299065 PMID:16338962 PMID:16470555 PMID:16601698 PMID:16619239 PMID:16621965 PMID:16630992 PMID:16710702 PMID:16787919 PMID:16816528 PMID:16936733 PMID:17018561 PMID:17076561 PMID:17079491 PMID:17089378 PMID:17198853 PMID:17210858 PMID:17241667 PMID:17293598 PMID:17360715 PMID:17396242 PMID:17398321 PMID:17472578 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252232 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:20301541 PMID:20513133 PMID:20660596 PMID:21317894 PMID:21415311 PMID:21670343 PMID:21909106 PMID:21930971 PMID:21979047 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:22594991 PMID:22669321 PMID:23235567 PMID:23307876 PMID:23431077 PMID:23847193 PMID:23852337 PMID:23870792 PMID:24029428 PMID:24036949 PMID:24036952 PMID:24333077 PMID:24498017 PMID:24847005 PMID:24906858 PMID:25037630 PMID:25188723 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26215151 PMID:26283675 PMID:26501415 PMID:26559391 PMID:26691988 PMID:26826462 PMID:27572114 PMID:27718086 PMID:28011711 PMID:28492532 PMID:28859202 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29511899 PMID:29686068 PMID:29888403 PMID:30046676 PMID:30295827 PMID:30560448 PMID:30674459 PMID:31447099 PMID:31575699 PMID:32185379 PMID:33024316 PMID:33369641 PMID:33519811 PMID:34169201 PMID:34189567 PMID:34508573 PMID:34912830 PMID:35925583 PMID:35930268 PMID:36246952 PMID:36445700 More...
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NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Best1 |
bestrophin 1 |
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ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy OMIM:611809 |
OMIM ClinVar MouseDO |
PMID:2133066 PMID:2162627 PMID:9700209 PMID:10788642 PMID:10798642 PMID:10854112 PMID:16754206 PMID:17110374 PMID:17287362 PMID:18179881 PMID:18985398 PMID:19372599 PMID:19853238 PMID:20057343 PMID:20927214 PMID:21077756 PMID:21109774 PMID:21192766 PMID:21269699 PMID:21273940 PMID:21330666 PMID:21412020 PMID:21738390 PMID:21809908 PMID:21825197 PMID:21878505 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23213274 PMID:23290749 PMID:23825107 PMID:24033266 PMID:24560797 PMID:25082885 PMID:25324289 PMID:25489231 PMID:25741868 PMID:26200502 PMID:26201355 PMID:26310487 PMID:26333019 PMID:26720466 PMID:27071392 PMID:27519691 PMID:27764019 PMID:27775230 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28687848 PMID:29063836 PMID:29215532 PMID:29507198 PMID:29555955 PMID:29668979 PMID:29781975 PMID:29847639 PMID:30498755 PMID:30578502 PMID:30593719 PMID:30718709 PMID:31570112 PMID:31766397 PMID:31814694 PMID:32141364 PMID:32239196 PMID:33302512 PMID:33546218 PMID:34015078 PMID:34327816 PMID:36527004 More...
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NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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G |
Crb1 |
crumbs cell polarity complex component 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy |
ClinVar |
PMID:17128490 PMID:17297678 PMID:23379534 PMID:24033266 PMID:25474345 PMID:25741868 PMID:27096895 PMID:27258436 PMID:27628848 PMID:28041643 PMID:28181551 PMID:28492532 PMID:28819299 PMID:29391521 PMID:33546218 PMID:36909829 More...
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NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
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G |
Fth1 |
ferritin heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy |
ClinVar |
PMID:2133066 PMID:10788642 PMID:18985398 PMID:20927214 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:24560797 PMID:25489231 PMID:25741868 PMID:26201355 PMID:26720466 PMID:28492532 PMID:28687848 PMID:29555955 PMID:29668979 PMID:30498755 PMID:30593719 PMID:33546218 More...
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NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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G |
Prph2 |
peripherin 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy |
ClinVar |
PMID:11139241 PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25741868 PMID:28492532 PMID:28559085 PMID:32531846 PMID:33546218 PMID:34906470 More...
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NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: Bietti tapetoretinal degeneration with marginal corneal dystrophy |
ClinVar |
PMID:9054934 PMID:10958761 PMID:23755871 PMID:24938718 PMID:25312043 PMID:25741868 PMID:26780318 PMID:28041643 PMID:28492532 PMID:29186038 PMID:30718709 PMID:30798147 PMID:33546218 More...
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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G |
Cyp4v3 |
cytochrome P450, family 4, subfamily v, polypeptide 3 |
|
ISO ISS |
ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: CYP4V2-related disorder OMIM:210370 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 PMID:16199547 PMID:17962476 PMID:18398705 PMID:21385027 PMID:21565171 PMID:22087103 PMID:22497028 PMID:22693542 PMID:22772592 PMID:23221965 PMID:23538635 PMID:23661369 PMID:24033266 PMID:24480711 PMID:24739949 PMID:25118264 PMID:25356976 PMID:25593508 PMID:25611614 PMID:25741868 PMID:26971461 PMID:27658286 PMID:28051075 PMID:28492532 PMID:28512305 PMID:28698241 PMID:28763560 PMID:28848678 PMID:29691984 PMID:29785639 PMID:30429639 PMID:31512983 PMID:31960602 PMID:33090715 PMID:33546218 More...
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NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
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G |
Klkb1 |
kallikrein B1 |
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ISO |
ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy |
ClinVar |
PMID:17962476 PMID:25741868 |
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NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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G |
Foxl2 |
forkhead box L2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
CTD ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:20429427 PMID:21325395 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
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NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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G |
Foxl2 |
forkhead box L2 |
|
ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:21325395 PMID:25741868 PMID:28492532 PMID:31077882 PMID:33538981 More...
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NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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G |
Copb2 |
COPI coat complex subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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G |
Foxl2 |
forkhead box L2 |
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ISO ISS |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome OMIM:110100 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:21325395 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33538981 PMID:33796131 PMID:36338666 PMID:39033378 PMID:11175783 More...
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RGD:1598958 |
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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G |
Arb2a |
ARB2 cotranscriptional regulator A |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162
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G |
Kiaa0825 |
KIAA0825 homolog |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
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G |
Nr2f1 |
nuclear receptor subfamily 2, group F, member 1 |
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ISO ISS |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM:615722 |
OMIM ClinVar MouseDO |
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:25741879 PMID:26138355 PMID:26350515 PMID:26986877 PMID:28492532 PMID:28963436 PMID:29410510 PMID:30755392 PMID:31393201 PMID:31729143 PMID:32275123 PMID:32407885 PMID:32712214 PMID:34466801 More...
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NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
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G |
Pou5f2 |
POU domain class 5, transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:7,907,504...7,908,738
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G |
Rlbp1 |
retinaldehyde binding protein 1 |
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ISO ISS |
ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY OMIM:607475 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:10102298 PMID:10102299 PMID:11449319 PMID:12536144 PMID:15234312 PMID:15953459 PMID:18344446 PMID:19846785 PMID:20238024 PMID:22171637 PMID:22183382 PMID:25326637 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28492532 PMID:31456290 PMID:32188692 More...
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NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
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G |
Rgs9 |
regulator of G-protein signaling 9 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bradyopsia |
CTD ClinVar |
PMID:11262419 PMID:14702087 PMID:17826834 PMID:19818506 PMID:25741868 PMID:28492532 PMID:30718709 More...
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NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
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G |
Rgs9bp |
regulator of G protein signaling 9 binding protein |
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ISO |
ClinVar Annotator: match by term: Bradyopsia |
ClinVar |
PMID:14702087 PMID:25741868 PMID:28492532 |
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NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151
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G |
Rgs9 |
regulator of G-protein signaling 9 |
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ISO |
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OMIM |
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NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
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G |
Rgs9bp |
regulator of G protein signaling 9 binding protein |
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ISO |
ClinVar Annotator: match by term: Prolonged electroretinal response suppression 2 |
OMIM ClinVar |
PMID:17698770 PMID:19818506 PMID:25741868 PMID:28492532 PMID:31144483 |
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NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151
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G |
Oca2 |
OCA2 melanosomal transmembrane protein |
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ISO |
DNA:deletion:exon:699_859del (human) ClinVar Annotator: match by term: Brown oculocutaneous albinism |
ClinVar RGD |
PMID:7920637 PMID:11179026 PMID:17767372 PMID:11179026 |
RGD:9491819 |
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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G |
Atl2 |
atlastin GTPase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421
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G |
Cpamd8 |
C3 and PZP-like, alpha-2-macroglobulin domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
PMID:25741868 |
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NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset OMIM:231300 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.A388T (human) DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human) DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human) DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human) DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human) DNA:deletion, snp:exons:g.4339delG, p.G61E (human) DNA:snp:cds:p.E387K (human) DNA:polymorphisms:multiple (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11184479 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:12598442 PMID:14507861 PMID:14635112 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16199547 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17224759 PMID:17363580 PMID:17563717 PMID:17576681 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18055790 PMID:18070520 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19528825 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20057908 PMID:20151268 PMID:20198978 PMID:20664688 PMID:20827438 PMID:21081970 PMID:21168818 PMID:21306220 PMID:21572728 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22878448 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:24940937 PMID:25018621 PMID:25091052 PMID:25109919 PMID:25261878 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25826643 PMID:25950505 PMID:25952714 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27268095 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28425089 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30662834 PMID:30788381 PMID:30820150 PMID:31024815 PMID:31251480 PMID:31453292 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32860008 PMID:32883240 PMID:34956319 PMID:35085548 PMID:35170016 PMID:36076309 PMID:36239105 PMID:37788597 PMID:38219857 PMID:16490498 PMID:19247456 PMID:12567107 PMID:19597567 PMID:19593207 PMID:20664688 PMID:10227395 PMID:23922489 PMID:12624268 More...
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RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 |
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Foxc1 |
forkhead box C1 |
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ISS |
OMIM:231300 |
MouseDO |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Galm |
galactose mutarotase |
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ISO |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310
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G |
Hnrnpll |
heterogeneous nuclear ribonucleoprotein L-like |
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ISO |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 6:14,969,953...15,000,574
Ensembl chr 6:14,970,057...14,999,745
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
PMID:19656777 |
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NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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G |
Myoc |
myocilin |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic |
ClinVar |
PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:16466712 PMID:17563717 PMID:22194650 PMID:22736945 PMID:25741868 PMID:28492532 PMID:35196929 More...
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NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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G |
Pxdn |
peroxidasin |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
PMID:25741868 |
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NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
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G |
Tyr |
tyrosinase |
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ISS |
OMIM:231300 |
MouseDO |
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NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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G |
Cryba4 |
crystallin, beta A4 |
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ISO |
ClinVar Annotator: match by term: Cataract 17 multiple types |
ClinVar |
PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 PMID:20565250 PMID:21402992 PMID:21972112 PMID:25086334 PMID:25741868 PMID:28492532 PMID:32854469 PMID:33223529 More...
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NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221
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G |
Crybb1 |
crystallin, beta B1 |
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ISO |
ClinVar Annotator: match by term: Cataract 17 multiple types CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 PMID:20565250 PMID:21402992 PMID:21972112 PMID:25086334 PMID:25741868 PMID:28492532 PMID:32854469 PMID:33223529 More...
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NCBI chr12:44,369,734...44,383,344
Ensembl chr12:44,369,735...44,383,344
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Crybb3 |
crystallin, beta B3 |
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ISO |
ClinVar Annotator: match by term: Cataract 22 multiple types | ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15914629 PMID:19182255 PMID:23508780 PMID:24940039 PMID:25640679 PMID:25741868 PMID:26694549 PMID:27307692 PMID:28492532 PMID:32830442 PMID:33510601 PMID:33923544 PMID:34014271 PMID:34356085 More...
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NCBI chr12:43,557,103...43,562,120
Ensembl chr12:43,557,103...43,562,120
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G |
Mmp19 |
matrix metallopeptidase 19 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cavitary optic disc anomalies |
OMIM CTD ClinVar |
PMID:10764862 PMID:25581579 PMID:25741868 PMID:28492532 |
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NCBI chr 7:1,221,229...1,229,555
Ensembl chr 7:1,221,343...1,229,555
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 PMID:32781272 PMID:33493137 More...
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NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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G |
Actn2 |
actinin alpha 2 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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G |
Ap3b1 |
adaptor related protein complex 3 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28132693 PMID:28492532 PMID:31898847 PMID:33217554 More...
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NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
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G |
Arid4b |
AT-rich interaction domain 4B |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906
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G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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G |
Card14 |
caspase recruitment domain family, member 14 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:24999592 PMID:25734815 PMID:25741868 PMID:25989471 PMID:26203641 PMID:26255310 PMID:26358359 PMID:28492532 PMID:28887889 PMID:30018619 PMID:30387497 PMID:31971603 PMID:36174714 PMID:36221432 More...
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NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
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Cd27 |
CD27 molecule |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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G |
Edaradd |
EDAR associated via death domain |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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G |
Elane |
elastase, neutrophil expressed |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 PMID:25703294 PMID:25741868 PMID:27854218 PMID:28492532 PMID:35047849 More...
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NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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G |
Ero1b |
endoplasmic reticulum oxidoreductase 1 beta |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:85,861,086...86,003,244
Ensembl chr17:85,929,618...86,003,398
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G |
Ggps1 |
geranylgeranyl diphosphate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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G |
Gng4 |
G protein subunit gamma 4 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
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G |
Gpr137b |
G protein-coupled receptor 137B |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:86,003,635...86,041,841
Ensembl chr17:85,966,921...86,041,835
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G |
Heatr1 |
HEAT repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:58,053,288...58,093,895
Ensembl chr17:58,051,700...58,093,948
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 PMID:22032624 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:28236224 PMID:28492532 More...
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NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il36rn |
interleukin 36 receptor antagonist |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition |
ClinVar |
PMID:6147717 PMID:9536098 PMID:17576681 PMID:21839423 PMID:22428995 PMID:22903787 PMID:23303454 PMID:23428889 PMID:23648549 PMID:23698098 PMID:23792462 PMID:23863864 PMID:24033266 PMID:24979538 PMID:25212972 PMID:25427108 PMID:25458002 PMID:25468355 PMID:25741868 PMID:25989471 PMID:26147717 PMID:26589685 PMID:26676204 PMID:27220475 PMID:27388993 PMID:27542682 PMID:27900482 PMID:28063630 PMID:28492532 PMID:28887889 PMID:29030861 PMID:30036598 PMID:30609409 PMID:32301172 More...
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NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
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G |
Itk |
IL2-inducible T-cell kinase |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532 |
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NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685
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G |
Lgals8 |
galectin 8 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:58,024,652...58,052,764
Ensembl chr17:58,028,105...58,052,764
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G |
Lpin2 |
lipin 2 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:24033266 PMID:25741868 PMID:26386126 PMID:26639818 PMID:27860302 PMID:28492532 PMID:33670882 More...
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NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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G |
Lyst |
lysosomal trafficking regulator |
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IAGP ISO ISS |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition OMIM:214500 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 PMID:9536098 PMID:10482950 PMID:10648412 PMID:11857544 PMID:15896657 PMID:16199547 PMID:17554367 PMID:17576681 PMID:18485661 PMID:19650863 PMID:19763152 PMID:20301751 PMID:20307669 PMID:20368792 PMID:21878672 PMID:22406018 PMID:22883044 PMID:23436631 PMID:23521865 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25312756 PMID:25640679 PMID:25741868 PMID:26193622 PMID:26597256 PMID:26684649 PMID:26915675 PMID:27484032 PMID:27577878 PMID:27669550 PMID:27679996 PMID:27781387 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28337550 PMID:28399723 PMID:28458669 PMID:28492532 PMID:28748566 PMID:29482223 PMID:29519750 PMID:29652989 PMID:30383631 PMID:30815890 PMID:30819905 PMID:30899265 PMID:31245861 PMID:31664448 PMID:31906877 PMID:32099069 PMID:32531373 PMID:32542393 PMID:32638196 PMID:32935436 PMID:33179747 PMID:33217554 PMID:34083498 PMID:36203604 PMID:38034538 PMID:10384041 More...
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RGD:633300 |
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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G |
Mefv |
MEFV innate immunity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 PMID:9668175 PMID:9715731 PMID:9781020 PMID:10024914 PMID:10090880 PMID:10234504 PMID:10364520 PMID:10447272 PMID:10611954 PMID:10612841 PMID:10737992 PMID:10737995 PMID:10787449 PMID:10787450 PMID:10842288 PMID:10852276 PMID:10854105 PMID:10854115 PMID:10879615 PMID:10905662 PMID:10980540 PMID:11017802 PMID:11175300 PMID:11464238 PMID:11464248 PMID:11468188 PMID:11470495 PMID:11588211 PMID:11903360 PMID:11938447 PMID:11977178 PMID:12064853 PMID:12105243 PMID:12124996 PMID:12180071 PMID:12401847 PMID:12687559 PMID:12908875 PMID:12929299 PMID:12955725 PMID:14578331 PMID:14578333 PMID:14612366 PMID:14679589 PMID:14727057 PMID:15018633 PMID:15020340 PMID:15024140 PMID:15024744 PMID:15146467 PMID:15168590 PMID:15458961 PMID:15475974 PMID:15502081 PMID:15643295 PMID:15717684 PMID:15720244 PMID:15745878 PMID:15805719 PMID:15942916 PMID:15951859 PMID:16100353 PMID:16179998 PMID:16255051 PMID:16378925 PMID:16403826 PMID:16439335 PMID:16439437 PMID:16498449 PMID:16523438 PMID:16614989 PMID:16627024 PMID:16730661 PMID:16785446 PMID:16802374 PMID:16889173 PMID:17276496 PMID:17329916 PMID:17331080 PMID:17489852 PMID:17566872 PMID:17665427 PMID:17665448 PMID:17934081 PMID:18097735 PMID:18307385 PMID:18328141 PMID:18353061 PMID:18386244 PMID:18409191 PMID:18496034 PMID:18609258 PMID:18662100 PMID:18691160 PMID:19026119 PMID:19151977 PMID:19253030 PMID:19302049 PMID:19449169 PMID:19466506 PMID:19531756 PMID:19762364 PMID:19777236 PMID:19784369 PMID:19786432 PMID:19790133 PMID:19820229 PMID:19845843 PMID:19863562 PMID:19877056 PMID:19929404 PMID:19934082 PMID:19934083 PMID:19934105 PMID:19967574 PMID:20008920 PMID:20008924 PMID:20041150 PMID:20044784 PMID:20051664 PMID:20165923 PMID:20177433 PMID:20301405 PMID:20437121 PMID:20483145 PMID:20485448 PMID:20525738 PMID:20534143 PMID:20602240 PMID:20645115 PMID:20669279 PMID:20688806 PMID:20721559 PMID:20828792 PMID:20890251 PMID:20981092 PMID:21153919 PMID:21228398 PMID:21246368 PMID:21290976 PMID:21358337 PMID:21413889 PMID:21520333 PMID:21562927 PMID:21598804 PMID:21598806 PMID:21600797 PMID:21623663 PMID:21727933 PMID:21978701 PMID:21995303 PMID:22019805 PMID:22037353 PMID:22190688 PMID:22207183 PMID:22261745 PMID:22337722 PMID:22451026 PMID:22467954 PMID:22505824 PMID:22532615 PMID:22566169 PMID:22580583 PMID:22614345 PMID:22661645 PMID:22722202 PMID:22810696 PMID:22903357 PMID:22906030 PMID:22934972 PMID:22975760 PMID:22995991 PMID:23006543 PMID:23010357 PMID:23031807 PMID:23038988 PMID:23070486 PMID:23137073 PMID:23155201 PMID:23164758 PMID:23166428 PMID:23206577 PMID:23217869 PMID:23291246 PMID:23302539 PMID:23325590 PMID:23334425 PMID:23400211 PMID:23437051 PMID:23463692 PMID:23505238 PMID:23505242 PMID:23524442 PMID:23588594 PMID:23592051 PMID:23633568 PMID:23716950 PMID:23800337 PMID:23844200 PMID:23847694 PMID:23867542 PMID:23907647 PMID:23973724 PMID:23981758 PMID:24033266 PMID:24071932 PMID:24082139 PMID:24117178 PMID:24123366 PMID:24158885 PMID:24233262 PMID:24251727 PMID:24261781 PMID:24263150 PMID:24289199 PMID:24318677 PMID:24369413 PMID:24381109 PMID:24383976 PMID:24433404 PMID:24469716 PMID:24702757 PMID:24797171 PMID:24862656 PMID:24929125 PMID:24965843 PMID:25006247 PMID:25073670 PMID:25088882 PMID:25203624 PMID:25261100 PMID:25286988 PMID:25393764 PMID:25615955 PMID:25626331 PMID:25648235 PMID:25671271 PMID:25703702 PMID:25708585 PMID:25741868 PMID:25760918 PMID:25793047 PMID:25810876 PMID:25821352 PMID:25866490 PMID:25959027 PMID:25974247 PMID:26003477 PMID:26005881 PMID:26027984 PMID:26028444 PMID:26078663 PMID:26131005 PMID:26215181 PMID:26247045 PMID:26299986 PMID:26351556 PMID:26360812 PMID:26399837 PMID:26413094 PMID:26467025 PMID:26510601 PMID:26537665 PMID:26554556 PMID:26585190 PMID:26620106 PMID:26690517 PMID:26722138 PMID:26759267 PMID:26843738 PMID:26933204 PMID:27030597 PMID:27100444 PMID:27333294 PMID:27364639 PMID:27457448 PMID:27473114 PMID:27513391 PMID:27535533 PMID:27621632 PMID:27659338 PMID:27733942 PMID:27838405 PMID:27884173 PMID:27956278 PMID:27980538 PMID:27994174 PMID:28001092 PMID:28211254 PMID:28302131 PMID:28386255 PMID:28421071 PMID:28483595 PMID:28492532 PMID:28573371 PMID:28590056 PMID:28597968 PMID:28678379 PMID:28750028 PMID:28863210 PMID:28927886 PMID:28943464 PMID:29040788 PMID:29047407 PMID:29080837 PMID:29148036 PMID:29159471 PMID:29178647 PMID:29260407 PMID:29314707 PMID:29363386 PMID:29379228 PMID:29526930 PMID:29543225 PMID:29599418 PMID:29735907 PMID:29756710 PMID:29808155 PMID:29927949 PMID:30171907 PMID:30235678 PMID:30355575 PMID:30407166 PMID:30409984 PMID:30476289 PMID:30487145 PMID:30513227 PMID:30546872 PMID:30686512 PMID:30698071 PMID:30783801 PMID:30887796 PMID:30915208 PMID:30996171 PMID:31088470 PMID:31204589 PMID:31264586 PMID:31411330 PMID:31512232 PMID:31531243 PMID:31598713 PMID:31620089 PMID:31646357 PMID:31693653 PMID:31989427 PMID:32082075 PMID:32199921 PMID:32312770 PMID:32398039 PMID:32401353 PMID:32447396 PMID:32461654 PMID:32716837 PMID:32741030 PMID:32818295 PMID:32824452 PMID:32853466 PMID:32909274 PMID:33079202 PMID:33223529 PMID:33331265 PMID:33440462 PMID:33497256 PMID:33560333 PMID:33715276 PMID:33726481 PMID:33733382 PMID:33738724 PMID:33747591 PMID:34120219 PMID:34328662 PMID:34426522 PMID:34606655 PMID:34612144 PMID:34665572 PMID:34739572 PMID:34880353 PMID:34918114 PMID:34988684 PMID:35061158 PMID:35098403 PMID:35156637 PMID:35190906 PMID:35298548 PMID:35358658 PMID:35490273 PMID:35780723 PMID:36076017 PMID:37481715 More...
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NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Mmab |
metabolism of cobalamin associated B |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
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G |
Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313769 PMID:12444096 PMID:12634869 PMID:15149516 PMID:15188372 PMID:15536479 PMID:16234278 PMID:16255052 PMID:16835861 PMID:17105862 PMID:18414213 PMID:18839211 PMID:19011501 PMID:20194276 PMID:21228398 PMID:21425920 PMID:21630610 PMID:22038276 PMID:22246419 PMID:23006543 PMID:23692791 PMID:23834120 PMID:23979089 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24561416 PMID:24656624 PMID:25677409 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26299986 PMID:26409462 PMID:26633545 PMID:26977311 PMID:26986117 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27387687 PMID:27612399 PMID:28359055 PMID:28492532 PMID:28638818 PMID:29047407 PMID:29290516 PMID:29624229 PMID:30597534 PMID:31474985 PMID:32060250 PMID:32199921 PMID:32441320 PMID:32822427 PMID:33917151 PMID:34145613 PMID:34525209 PMID:34809655 PMID:35387795 More...
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NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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G |
Nid1 |
nidogen 1 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267
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G |
Nlrc4 |
NLR family, CARD domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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G |
Nlrp12 |
NLR family, pyrin domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 PMID:21538323 PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 PMID:28492532 PMID:29500522 PMID:30783801 PMID:30788684 PMID:30858956 PMID:31820221 PMID:34975878 More...
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NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
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G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15020601 PMID:15593220 PMID:15801036 PMID:16100350 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:17576681 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20131270 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22843550 PMID:22935299 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24431285 PMID:24649046 PMID:24759409 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30311386 PMID:30407166 PMID:30772614 PMID:30808881 PMID:32082075 PMID:32199921 More...
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NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12202985 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12650796 PMID:12673278 PMID:12704363 PMID:14508222 PMID:14765395 PMID:15002819 PMID:15024686 PMID:15044951 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15571588 PMID:15712650 PMID:15770725 PMID:15967635 PMID:16010583 PMID:16199547 PMID:16278823 PMID:16416181 PMID:16485124 PMID:16669960 PMID:17301648 PMID:17489054 PMID:17576681 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18942754 PMID:19103559 PMID:19184348 PMID:19184350 PMID:19185283 PMID:19349988 PMID:19397946 PMID:19467619 PMID:19641059 PMID:19713276 PMID:19748964 PMID:20032092 PMID:20047977 PMID:20230816 PMID:20332463 PMID:20713205 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21460759 PMID:21548950 PMID:21565239 PMID:21745302 PMID:21830272 PMID:21914217 PMID:21951874 PMID:21983784 PMID:21994160 PMID:22275320 PMID:22319155 PMID:22344438 PMID:22440928 PMID:22543157 PMID:22684479 PMID:22859352 PMID:22939045 PMID:22942351 PMID:23102769 PMID:23128233 PMID:23173613 PMID:23615072 PMID:23633568 PMID:23709157 PMID:24033266 PMID:24047397 PMID:24345423 PMID:24391456 PMID:24583628 PMID:24586700 PMID:24597572 PMID:24803813 PMID:25093298 PMID:25209167 PMID:25365249 PMID:25416713 PMID:25741868 PMID:26042516 PMID:26070941 PMID:26164256 PMID:26167078 PMID:26316104 PMID:26500656 PMID:26774591 PMID:27306066 PMID:27373512 PMID:28008999 PMID:28166811 PMID:28422189 PMID:28492532 PMID:28658209 PMID:28750667 PMID:28814775 PMID:29178652 PMID:29248579 PMID:29321258 PMID:29446656 PMID:29795570 PMID:29867916 PMID:30159790 PMID:30166421 PMID:30167848 PMID:30552907 PMID:30553995 PMID:31681265 PMID:32463623 PMID:32597225 PMID:32716958 More...
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NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Prf1 |
perforin 1 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15659737 PMID:15728124 PMID:15755277 PMID:15755897 PMID:16278825 PMID:16374518 PMID:16720836 PMID:16860143 PMID:17164654 PMID:17311987 PMID:17475905 PMID:17477373 PMID:17525286 PMID:17606450 PMID:17674359 PMID:17873118 PMID:18496551 PMID:18799942 PMID:18927437 PMID:19487666 PMID:20019066 PMID:20092789 PMID:20197201 PMID:21234777 PMID:21674762 PMID:21881043 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23255033 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24309606 PMID:24916509 PMID:25047945 PMID:25233452 PMID:25741868 PMID:25741905 PMID:25776844 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26739415 PMID:27271812 PMID:27391055 PMID:27535533 PMID:28492532 PMID:29263817 PMID:29357941 PMID:29665027 PMID:31388699 PMID:31395954 PMID:31664448 PMID:32150605 PMID:32356861 PMID:32542393 PMID:32638196 PMID:33225392 PMID:33658321 PMID:33746956 PMID:34938098 More...
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NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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G |
Psmb8 |
proteasome 20S subunit beta 8 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 |
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NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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G |
Pstpip1 |
proline-serine-threonine phosphatase-interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138 |
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NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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G |
Rab27a |
RAB27A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 PMID:19030707 PMID:19953648 PMID:23160464 PMID:24678334 PMID:25071262 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25801174 PMID:26880764 PMID:27016801 PMID:27781387 PMID:28353193 PMID:28492532 PMID:29357941 PMID:29522846 PMID:30290665 PMID:31164711 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32853466 PMID:32856792 PMID:32888943 PMID:32965739 PMID:34170459 PMID:34329649 PMID:34573280 PMID:37273692 More...
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NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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G |
Rbm34 |
RNA binding motif protein 34 |
|
ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 PMID:28492532 PMID:30018619 PMID:30387497 PMID:31971603 PMID:36174714 PMID:36221432 More...
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NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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G |
Sh2d1a |
SH2 domain containing 1A |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 PMID:28492532 PMID:31415280 More...
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NCBI chr X:121,373,693...121,401,923
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G |
Slc7a7 |
solute carrier family 7 member 7 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 PMID:25741868 PMID:26740551 PMID:28492532 PMID:28976792 PMID:29795570 PMID:34095032 More...
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NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 PMID:28492532 PMID:30919572 PMID:32673614 PMID:33488593 PMID:35086391 PMID:35482138 PMID:36275728 More...
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NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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G |
Stx11 |
syntaxin 11 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:24524345 PMID:25741868 PMID:28492532 |
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NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
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G |
Stxbp2 |
syntaxin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 PMID:21881043 PMID:22451424 PMID:23687090 PMID:24033266 PMID:24194549 PMID:24916509 PMID:25741868 PMID:27577878 PMID:27781387 PMID:28492532 PMID:29665027 PMID:32256442 PMID:32542393 PMID:32935436 PMID:34050687 PMID:34249802 PMID:34330684 PMID:36588876 PMID:36706356 More...
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NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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G |
Tbce |
tubulin folding cofactor E |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition |
ClinVar |
PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 PMID:18512793 PMID:19917181 PMID:21029567 PMID:22311714 PMID:22801493 PMID:23322460 PMID:23745996 PMID:23965844 PMID:24033266 PMID:24393624 PMID:25326637 PMID:25741868 PMID:25936627 PMID:26598380 PMID:27264265 PMID:28492532 PMID:28814775 PMID:32380704 PMID:32831641 PMID:35753512 More...
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NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tomm20 |
translocase of outer mitochondrial membrane 20 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9215679 PMID:11857544 PMID:28492532 |
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NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198
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G |
Unc13d |
unc-13 homolog D |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 PMID:16278825 PMID:16825436 PMID:17576681 PMID:17993578 PMID:18240215 PMID:18492689 PMID:18759271 PMID:19484379 PMID:19704116 PMID:20823128 PMID:21094958 PMID:21152410 PMID:21248318 PMID:21370424 PMID:21600143 PMID:21674762 PMID:21755595 PMID:21881043 PMID:23180437 PMID:23840885 PMID:24033266 PMID:24139496 PMID:24459464 PMID:24470399 PMID:24916509 PMID:25502423 PMID:25573973 PMID:25741868 PMID:26342526 PMID:28399723 PMID:28492532 PMID:28748566 PMID:29113160 PMID:29262924 PMID:29357941 PMID:29415165 PMID:29549174 PMID:30899265 PMID:32222431 PMID:32375849 PMID:32542393 PMID:32638196 PMID:33746956 PMID:34170459 PMID:34339548 PMID:34677667 PMID:36155879 More...
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NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
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G |
Xiap |
X-linked inhibitor of apoptosis |
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ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome |
ClinVar |
PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 PMID:25741868 PMID:27537055 PMID:28492532 More...
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NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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G |
Chm |
CHM Rab escort protein |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:303100 ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type |
OMIM CTD MouseDO ClinVar |
PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 PMID:8832720 PMID:9067750 PMID:9175730 PMID:10447648 PMID:11139690 PMID:12203991 PMID:12827496 PMID:16087855 PMID:16199547 PMID:16936131 PMID:18766988 PMID:19427510 PMID:21905166 PMID:22957832 PMID:23811034 PMID:25741868 PMID:25744334 PMID:25912515 PMID:26133251 PMID:27247961 PMID:28041643 PMID:28098911 PMID:28492532 PMID:28559085 PMID:29045269 PMID:29555028 PMID:30297895 PMID:30541579 PMID:30995293 PMID:31054281 PMID:32097478 PMID:32364220 PMID:32487042 PMID:32531858 PMID:36909829 More...
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NCBI chr X:78,203,200...78,361,996
Ensembl chr X:78,203,204...78,361,943
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G |
Prph2 |
peripherin 2 |
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ISO |
ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy |
ClinVar |
PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 PMID:17576681 PMID:23950152 PMID:25082885 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 PMID:28559085 PMID:32531846 More...
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NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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G |
Mitf |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
ClinVar OMIM |
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27884168 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 More...
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
DNA:mutations:multiple: ClinVar Annotator: match by term: Macular dystrophy, concentric annular |
ClinVar RGD |
PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 PMID:19074458 PMID:20696155 PMID:22264887 PMID:22328824 PMID:23443024 PMID:23591405 PMID:23695285 PMID:24342785 PMID:24713488 PMID:24938718 PMID:25082885 PMID:25097241 PMID:25312043 PMID:25525159 PMID:25544989 PMID:25741868 PMID:26261413 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27775217 PMID:28041643 PMID:28118664 PMID:28492532 PMID:28559085 PMID:29310964 PMID:29461686 PMID:29925512 PMID:30576320 PMID:30718709 PMID:32235935 PMID:33546218 PMID:36909829 PMID:36910710 PMID:18024811 More...
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RGD:7829711 |
NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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Crx |
cone-rod homeobox |
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ISO |
ClinVar Annotator: match by term: Benign concentric annular macular dystrophy |
ClinVar |
PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 PMID:28492532 More...
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NCBI chr 1:76,539,812...76,553,694
Ensembl chr 1:76,540,141...76,545,818
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G |
Impg1 |
interphotoreceptor matrix proteoglycan 1 |
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ISO |
ClinVar Annotator: match by term: Benign concentric annular macular dystrophy | ClinVar Annotator: match by term: IMPG1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:32817297 PMID:36909829 More...
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NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722
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G |
Pde6c |
phosphodiesterase 6C |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 PMID:19615668 PMID:19887631 PMID:20301591 PMID:21127010 PMID:23776498 PMID:25326637 PMID:25741868 PMID:26103963 PMID:27124789 PMID:28041643 PMID:28492532 PMID:30080950 PMID:31964843 PMID:32913385 PMID:33001157 PMID:33546218 More...
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NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
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G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11346402 PMID:11444963 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11857735 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12796258 PMID:14517951 PMID:15108289 PMID:15192030 PMID:15516930 PMID:16103129 PMID:16123440 PMID:16199547 PMID:16303926 PMID:16400609 PMID:17325136 PMID:17325179 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18854780 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19365591 PMID:20029649 PMID:20335603 PMID:20647261 PMID:20696155 PMID:20981092 PMID:21330655 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22312191 PMID:22427542 PMID:22661472 PMID:22661473 PMID:22735453 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23918662 PMID:23940504 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24453473 PMID:24677105 PMID:24713488 PMID:24938718 PMID:25066811 PMID:25082829 PMID:25082885 PMID:25087612 PMID:25097154 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25444351 PMID:25472526 PMID:25474345 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25921964 PMID:26103963 PMID:26247787 PMID:26527198 PMID:26593885 PMID:26720470 PMID:26780318 PMID:26872967 PMID:27014590 PMID:27535533 PMID:27628848 PMID:27739528 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29186038 PMID:29310964 PMID:29555955 PMID:29706639 PMID:29847635 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30190494 PMID:30480703 PMID:30563929 PMID:30718709 PMID:31212395 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31522899 PMID:31543898 PMID:31576780 PMID:31618812 PMID:31736247 PMID:31814694 PMID:31964843 PMID:32278709 PMID:32307445 PMID:32531858 PMID:32619608 PMID:32653833 PMID:32717343 PMID:32783370 PMID:33223529 PMID:33258285 PMID:33546218 PMID:33633436 PMID:33841504 PMID:34008892 PMID:34874912 PMID:34906470 PMID:35886001 PMID:35903041 PMID:36471740 PMID:36909829 PMID:38054408 PMID:92952680 More...
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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G |
Acbd5 |
acyl-CoA binding domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
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G |
Adam9 |
ADAM metallopeptidase domain 9 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:19409519 PMID:25741868 PMID:28492532 |
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NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:15322546 PMID:16155189 PMID:16453322 PMID:25525159 PMID:25616960 PMID:25741868 PMID:26035800 PMID:26092869 PMID:28118669 PMID:28442542 PMID:28492532 PMID:29186038 PMID:36819107 More...
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:17594715 PMID:25741868 PMID:26047050 PMID:26077327 PMID:28492532 PMID:29588463 More...
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NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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G |
Arl6 |
ADP-ribosylation factor like GTPase 6 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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G |
Best1 |
bestrophin 1 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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G |
Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 PMID:29525873 PMID:29706639 PMID:30718709 PMID:31456290 More...
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NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30576320 PMID:30718709 PMID:36909829 |
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NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
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NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268
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G |
Cdhr1 |
cadherin-related family member 1 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23044944 PMID:23233793 PMID:23591405 PMID:24033266 PMID:25741868 PMID:26103963 PMID:26261414 PMID:27353947 PMID:28224992 PMID:28492532 PMID:28765526 PMID:28885867 PMID:29555955 PMID:30718709 PMID:31387115 PMID:31456290 PMID:32681094 PMID:33546218 PMID:34795310 PMID:34906470 PMID:35260635 PMID:35627310 More...
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NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:16909394 PMID:17345604 PMID:20690115 PMID:25741868 PMID:28492532 PMID:29641573 PMID:30193310 PMID:30718709 PMID:32865313 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Cep78 |
centrosomal protein 78 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 PMID:32531858 More...
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NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
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G |
Cerkl |
ceramide kinase-like |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 PMID:22164218 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24625443 PMID:24705292 PMID:25097241 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28492532 PMID:30718709 PMID:34906470 PMID:36909829 PMID:221642182 More...
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NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675
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G |
Cfap20 |
cilia and flagella associated protein 20 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:35246562 |
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NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558
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G |
Cfap410 |
cilia and flagella associated protein 410 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:27596865 PMID:28492532 PMID:31456290 |
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NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
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G |
Cfap418 |
cilia and flagella associated protein 418 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
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G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
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G |
Cnga1 |
cyclic nucleotide gated channel subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28981474 PMID:30718709 PMID:32531858 More...
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NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065
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G |
Cnga3 |
cyclic nucleotide gated channel subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:11536077 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30289319 PMID:36909829 More...
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NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183
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G |
Cngb3 |
cyclic nucleotide gated channel subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28492532 PMID:28795510 PMID:30544257 PMID:30718709 PMID:32860008 PMID:33546218 PMID:36909829 More...
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NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
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Crb1 |
crumbs cell polarity complex component 1 |
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ISO |
DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human) ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:32037395 PMID:36909829 PMID:23767994 |
RGD:13451130 |
NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
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G |
Crx |
cone-rod homeobox |
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ISO |
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:9390563 PMID:9427255 PMID:10874321 PMID:10916183 PMID:11748859 PMID:11971869 PMID:24265693 PMID:25741868 PMID:26992781 PMID:28492532 PMID:30543658 PMID:30718709 PMID:31626798 PMID:32533067 PMID:33691693 PMID:36909829 More...
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NCBI chr 1:76,539,812...76,553,694
Ensembl chr 1:76,540,141...76,545,818
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Dram2 |
DNA damage regulated autophagy modulator 2 |
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ISO ISS |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36909829 |
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NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403
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G |
Fam161a |
FAM161 centrosomal protein A |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:20705278 PMID:20705279 PMID:24651477 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26574802 PMID:28492532 PMID:30718709 PMID:34906470 More...
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NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588
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G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:15060128 PMID:19370764 PMID:20301784 PMID:25741868 PMID:28492532 |
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NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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G |
Gphn |
gephyrin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28157192 PMID:28492532 PMID:30134391 PMID:32014858 PMID:36909829 More...
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NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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G |
Guca1a |
guanylate cyclase activator 1A |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:24352742 PMID:25741868 PMID:28492532 PMID:36909829 |
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NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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G |
Guca1b |
guanylate cyclase activator 1B |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:24352742 PMID:25741868 |
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NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
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G |
Gucy2e |
guanylate cyclase 2E |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:24875811 PMID:25741868 PMID:26298565 PMID:28041643 PMID:28492532 PMID:30319355 PMID:30718709 PMID:33546218 PMID:34906470 PMID:36909829 More...
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G |
Ift122 |
intraflagellar transport 122 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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Ift88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
Impg2 |
interphotoreceptor matrix proteoglycan 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 PMID:25999675 PMID:26075876 PMID:26092869 PMID:27353947 PMID:28125082 PMID:28492532 PMID:28559085 PMID:29146704 PMID:29186038 PMID:31456290 PMID:32483926 PMID:34188062 PMID:34234304 PMID:36909829 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Itga4 |
integrin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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G |
Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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Lrat |
lecithin retinol acyltransferase |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
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G |
Mc4r |
melanocortin 4 receptor |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:10903341 PMID:12499395 PMID:12690102 PMID:16507637 PMID:16611215 PMID:18559663 PMID:23791567 PMID:25741868 PMID:25741869 PMID:30004997 More...
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NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:36909829 |
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NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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G |
Mir103a2 |
microRNA 103a-2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
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NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:26316326 PMID:28492532 |
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NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
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Nr2e3 |
nuclear receptor subfamily 2, group E, member 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 PMID:19718767 PMID:21217109 PMID:23591405 PMID:23989059 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:26894784 PMID:27522502 PMID:27573156 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28771251 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30324420 PMID:30718709 PMID:32679203 PMID:34906470 PMID:36909829 More...
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NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
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Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Pank2 |
pantothenate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:11479594 PMID:12510040 PMID:16023068 PMID:28492532 |
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NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
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Pcare |
photoreceptor cilium actin regulator |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:20398886 PMID:24339724 PMID:25741868 PMID:26496393 PMID:28492532 PMID:28763557 More...
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NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169
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Pde6b |
phosphodiesterase 6B |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:30718709 |
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NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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Pde6c |
phosphodiesterase 6C |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
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Pitpnm3 |
PITPNM family member 3 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
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Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25480986 PMID:25741868 PMID:28492532 PMID:31135245 PMID:31712030 More...
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Poc1b |
POC1 centriolar protein B |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 7:33,924,112...34,025,908
Ensembl chr 7:33,924,189...34,025,903
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Prom1 |
prominin 1 |
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ISO |
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:20042663 PMID:23591405 PMID:23757202 PMID:24154662 PMID:24265693 PMID:24474277 PMID:24516651 PMID:25474345 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26261540 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28418496 PMID:28492532 PMID:30588538 PMID:31129250 PMID:31199449 PMID:32531858 PMID:35951719 PMID:36909829 More...
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NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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Prph2 |
peripherin 2 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:7493155 PMID:8015786 PMID:8111389 PMID:8302543 PMID:8485575 PMID:8485576 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9279751 PMID:9331261 PMID:9443872 PMID:9536098 PMID:10193525 PMID:10532447 PMID:11139241 PMID:11704030 PMID:14510799 PMID:14557183 PMID:15370544 PMID:15779916 PMID:16019073 PMID:16113362 PMID:16767206 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17504850 PMID:17576681 PMID:17653047 PMID:17698758 PMID:18310263 PMID:19038374 PMID:19262438 PMID:20213611 PMID:20640437 PMID:21071739 PMID:22183351 PMID:22466463 PMID:22863181 PMID:23950152 PMID:24463884 PMID:24608669 PMID:24629188 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25268133 PMID:25474345 PMID:25675413 PMID:25741868 PMID:25803555 PMID:26061163 PMID:26103963 PMID:26155838 PMID:26161267 PMID:26667666 PMID:26796962 PMID:26842753 PMID:27365499 PMID:27884173 PMID:28492530 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29343940 PMID:29555955 PMID:30718709 PMID:30726412 PMID:30926958 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31574917 PMID:32531846 PMID:32717343 PMID:33546218 PMID:34240658 PMID:34906470 More...
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NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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Rab28 |
RAB28, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:23746546 PMID:25741868 PMID:28492532 PMID:36909829 |
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NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967
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Rbp3 |
retinol binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
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NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006
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Rdh12 |
retinol dehydrogenase 12 |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28157192 PMID:28492532 PMID:30134391 PMID:32014858 PMID:36909829 More...
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NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
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Rho |
rhodopsin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:7981701 PMID:8088850 PMID:9380676 PMID:11139241 PMID:12871954 PMID:17488458 PMID:19913029 PMID:21094163 PMID:21219898 PMID:25741868 PMID:28492532 PMID:29847639 PMID:30240733 PMID:30718709 More...
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NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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Rims1 |
regulating synaptic membrane exocytosis 1 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30193310 |
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Rpe65 |
retinoid isomerohydrolase RPE65 |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:32581362 |
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NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Rpgr |
retinitis pigmentosa GTPase regulator |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:30718709 |
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NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
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Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:11528500 PMID:16272259 PMID:23105016 PMID:25741868 PMID:28492532 PMID:30072743 More...
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NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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Scaper |
S-phase cyclin A-associated protein in the ER |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:28794130 |
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NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
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Sema4a |
semaphorin 4A |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
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Snrnp200 |
small nuclear ribonucleoprotein U5 subunit 200 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:23847139 PMID:25741868 PMID:27735924 PMID:28492532 PMID:28559085 |
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NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182
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G |
Ssbp1 |
single stranded DNA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:31298765 PMID:31550237 PMID:36909829 |
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NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135
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Tbx4 |
T-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:15106123 PMID:16199547 PMID:25741868 PMID:28492532 PMID:29631995 PMID:30004997 PMID:30029678 PMID:31151956 PMID:31727138 PMID:31761294 PMID:31965066 PMID:32079640 More...
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NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Tlcd3b |
TLC domain containing 3B |
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ISS |
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MouseDO |
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NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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Trpm6 |
transient receptor potential cation channel, subfamily M, member 6 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:28041643 PMID:32581362 |
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NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520
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Ttll5 |
tubulin tyrosine ligase like 5 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:16199547 PMID:24791901 PMID:25741868 PMID:27162334 PMID:28492532 PMID:36909829 More...
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NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
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Unc119 |
unc-119 lipid binding chaperone |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:11006213 PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339
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Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:2564938 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:16963483 PMID:17405132 PMID:18273898 PMID:18463160 PMID:18641288 PMID:18665195 PMID:19683999 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:20513143 PMID:21569298 PMID:22135276 PMID:22581970 PMID:23591405 PMID:23924366 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24498627 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25262649 PMID:25333064 PMID:25404053 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25991456 PMID:26338283 PMID:26629787 PMID:26633545 PMID:26872967 PMID:26927203 PMID:27208204 PMID:27460420 PMID:27957503 PMID:28041643 PMID:28492532 PMID:28512305 PMID:28944237 PMID:29293505 PMID:29953849 PMID:30718709 PMID:31266775 PMID:31817543 PMID:31836858 PMID:31998945 PMID:32675063 PMID:33691693 PMID:34906470 PMID:36011334 PMID:36909829 More...
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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Pde6b |
phosphodiesterase 6B |
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ISO |
Retinal atrophy - Cone-rod dystrophy 1 |
OMIA |
PMID:15064680 PMID:22065099 PMID:24045995 PMID:30050836 PMID:38028226 |
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NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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Sema4a |
semaphorin 4A |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 10 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199541 PMID:22956603 PMID:23360997 PMID:24033266 PMID:25307848 PMID:25637381 PMID:25741868 PMID:26103963 PMID:28492532 PMID:28805479 PMID:32483926 PMID:32531858 More...
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NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
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Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 12 |
ClinVar |
PMID:25741868 PMID:31497877 |
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Prom1 |
prominin 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 12 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 PMID:16199547 PMID:17605048 PMID:18654668 PMID:19718270 PMID:20393116 PMID:20554613 PMID:20859302 PMID:22025579 PMID:22183351 PMID:22581970 PMID:23105016 PMID:23591405 PMID:24154662 PMID:24265693 PMID:24474277 PMID:24763286 PMID:24938718 PMID:25356976 PMID:25474345 PMID:25741868 PMID:25910913 PMID:25999674 PMID:26103963 PMID:26161267 PMID:26261540 PMID:26355662 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28095140 PMID:28418496 PMID:28492532 PMID:28559085 PMID:29555955 PMID:29847639 PMID:30215852 PMID:30588538 PMID:30718709 PMID:31199449 PMID:32531858 PMID:32581362 PMID:32820593 PMID:33546218 PMID:34906470 PMID:35947379 PMID:36909829 More...
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NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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Chd8 |
chromodomain helicase DNA binding protein 8 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
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NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
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G |
Hnrnpc |
heterogeneous nuclear ribonucleoprotein C |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:28492532 |
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NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
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G |
Mettl3 |
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
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NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
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G |
Rab2b |
RAB2B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
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NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113
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G |
Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 PMID:15024725 PMID:15800011 PMID:16123401 PMID:16199547 PMID:16272259 PMID:16339905 PMID:16374347 PMID:17525851 PMID:17576681 PMID:17964524 PMID:18055816 PMID:18682808 PMID:20079931 PMID:20301475 PMID:21153841 PMID:21224891 PMID:21602930 PMID:21857984 PMID:22025579 PMID:22261762 PMID:22277662 PMID:23105016 PMID:23213406 PMID:23505306 PMID:23661368 PMID:23776498 PMID:23847139 PMID:24123792 PMID:24265693 PMID:24997176 PMID:25097241 PMID:25326637 PMID:25412400 PMID:25445212 PMID:25640679 PMID:25741868 PMID:26047050 PMID:26355662 PMID:26667666 PMID:26764160 PMID:26872967 PMID:26893459 PMID:26992781 PMID:27208204 PMID:27353947 PMID:27422788 PMID:27884173 PMID:28041643 PMID:28157192 PMID:28378820 PMID:28453600 PMID:28456785 PMID:28492532 PMID:28559085 PMID:28679690 PMID:28714225 PMID:28838317 PMID:29178642 PMID:29343940 PMID:29754767 PMID:29844330 PMID:30072743 PMID:30202406 PMID:30576320 PMID:30902645 PMID:31429209 PMID:31456290 PMID:31630094 PMID:31736247 PMID:32581362 PMID:32860008 PMID:32865313 PMID:33308271 PMID:33670832 PMID:34722527 PMID:36369640 PMID:36819107 PMID:36909829 More...
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NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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G |
Sall2 |
spalt-like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
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NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918
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G |
Supt16h |
SPT16 homolog, facilitates chromatin remodeling subunit |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
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NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
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G |
Tox4 |
TOX high mobility group box family member 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
ClinVar |
PMID:11528500 PMID:23105016 PMID:28492532 |
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NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
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Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 |
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NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268
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G |
Cimip3 |
ciliary microtubule inner protein 3 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:25741868 |
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NCBI chr 9:13,560,669...13,582,987
Ensembl chr 9:13,560,876...13,582,814
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Guca1a |
guanylate cyclase activator 1A |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 | ClinVar Annotator: match by term: Cone-rod dystrophy 14 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9425045 PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:11484154 PMID:15505030 PMID:15735604 PMID:15790869 PMID:15953638 PMID:18706439 PMID:19459154 PMID:23472098 PMID:24024198 PMID:24352742 PMID:24566882 PMID:24875811 PMID:25741868 PMID:26358777 PMID:26766544 PMID:28025326 PMID:28041643 PMID:28125083 PMID:28442884 PMID:28492532 PMID:28559085 PMID:29555955 PMID:30184081 PMID:30622141 PMID:30718709 PMID:31728034 PMID:31882816 PMID:31979372 PMID:32025184 PMID:33546218 More...
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NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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Guca1b |
guanylate cyclase activator 1B |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:15505030 PMID:24352742 PMID:25741868 PMID:28492532 |
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NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
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G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:23885164 PMID:25741868 PMID:28492532 |
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NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
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G |
Pde6h |
phosphodiesterase 6H |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
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NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969
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Rho |
rhodopsin |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:17936999 PMID:23484092 PMID:25741868 PMID:28492532 PMID:30977563 |
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NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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Cdhr1 |
cadherin-related family member 1 |
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ISO |
ClinVar Annotator: match by term: CDHR1-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 15 | ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 | ClinVar Annotator: match by term: Retinitis pigmentosa 65 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20087419 PMID:20805371 PMID:23044944 PMID:23233793 PMID:23591405 PMID:24033266 PMID:24154662 PMID:25741868 PMID:26103963 PMID:26261414 PMID:26306921 PMID:26766544 PMID:27353947 PMID:27623334 PMID:28041643 PMID:28224992 PMID:28418496 PMID:28492532 PMID:28765526 PMID:28885867 PMID:29555955 PMID:29785639 PMID:30576320 PMID:30718709 PMID:30992995 PMID:31387115 PMID:32037395 PMID:32681094 PMID:33546218 PMID:33691693 PMID:33946315 PMID:34795310 PMID:34906470 PMID:34926197 PMID:35627310 More...
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NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
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Rpe65 |
retinoid isomerohydrolase RPE65 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 15 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Cfap418 |
cilia and flagella associated protein 418 |
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ISO ISS |
ClinVar Annotator: match by term: C8orf37-related disorder | ClinVar Annotator: match by term: CFAP418-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: Retinitis pigmentosa 64 OMIM:614500 |
OMIM ClinVar MouseDO |
PMID:16199547 PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 PMID:26355662 PMID:26854863 PMID:26865426 PMID:27008867 PMID:28492532 PMID:29127258 PMID:29843741 PMID:30029497 PMID:31456290 PMID:34906470 More...
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NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
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Rab28 |
RAB28, member RAS oncogene family |
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ISO ISS |
OMIM:615374 ClinVar Annotator: match by term: Cone-rod dystrophy 18 |
OMIM MouseDO ClinVar |
PMID:23746546 PMID:23806086 PMID:24088041 PMID:25356532 PMID:25741868 PMID:28492532 More...
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NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967
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Ttll5 |
tubulin tyrosine ligase like 5 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 19 | ClinVar Annotator: match by term: TTLL5-related condition |
OMIM ClinVar |
PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 PMID:28492532 |
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NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
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Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 2 |
ClinVar |
PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 |
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NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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Crx |
cone-rod homeobox |
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ISO ISS |
ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 OMIM:120970 |
OMIM ClinVar MouseDO |
PMID:1583653 PMID:9390563 PMID:9427255 PMID:9792858 PMID:10766140 PMID:10874321 PMID:10916183 PMID:11139241 PMID:11748859 PMID:11971869 PMID:15531334 PMID:16123401 PMID:17964524 PMID:18682808 PMID:20513135 PMID:22960069 PMID:22968130 PMID:23049240 PMID:24265693 PMID:25270190 PMID:25741868 PMID:26161267 PMID:26355662 PMID:26682157 PMID:28041643 PMID:28492532 PMID:28945142 PMID:29068479 PMID:29785639 PMID:30543658 PMID:30718709 PMID:31054281 PMID:31215831 PMID:31626798 PMID:31630094 PMID:32533067 PMID:33546218 PMID:33691693 PMID:36909829 More...
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NCBI chr 1:76,539,812...76,553,694
Ensembl chr 1:76,540,141...76,545,818
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Iqcb1 |
IQ motif containing B1 |
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ISO |
Retinal atrophy - Cone-rod dystrophy 2 |
OMIA |
PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 PMID:33781914 PMID:34954206 PMID:38168165 PMID:38241039 More...
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NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Prom1 |
prominin 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 |
ClinVar |
PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26153215 PMID:26261540 PMID:27874104 PMID:28041643 PMID:28492532 PMID:30588538 More...
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NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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Poc1b |
POC1 centriolar protein B |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 20 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24945461 PMID:25018096 PMID:25044745 PMID:25741868 PMID:28492532 PMID:29220607 PMID:32244552 PMID:34065499 More...
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NCBI chr 7:33,924,112...34,025,908
Ensembl chr 7:33,924,189...34,025,903
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G |
Dram2 |
DNA damage regulated autophagy modulator 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 21 |
OMIM ClinVar |
PMID:25741868 PMID:25983245 PMID:28492532 PMID:32483926 PMID:35806404 |
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NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403
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G |
C1h16orf92 |
similar to human chromosome 16 open reading frame 92 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 22 |
ClinVar |
PMID:33077892 |
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NCBI chr 1:181,434,524...181,441,000
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G |
Tlcd3b |
TLC domain containing 3B |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 22 |
OMIM ClinVar |
PMID:33077892 |
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NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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G |
Unc119 |
unc-119 lipid binding chaperone |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 24 |
OMIM ClinVar |
PMID:11006213 PMID:25741868 PMID:26992781 PMID:28492532 PMID:35947183 |
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NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO ISS |
ClinVar Annotator: match by term: Cone-rod dystrophy 3 OMIM:604116 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10413692 PMID:10458172 PMID:10509673 PMID:10612508 PMID:10634594 PMID:10634626 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11379881 PMID:11385708 PMID:11444963 PMID:11527935 PMID:11594993 PMID:11673412 PMID:11687513 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16199547 PMID:16303926 PMID:16400609 PMID:16533065 PMID:16546111 PMID:16682602 PMID:16703556 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18414213 PMID:18652558 PMID:18854780 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19217903 PMID:19265867 PMID:19365591 PMID:20029649 PMID:20128570 PMID:20554613 PMID:20647261 PMID:20696155 PMID:21293320 PMID:21330655 PMID:21786275 PMID:21873672 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22427542 PMID:22449572 PMID:22589445 PMID:22661472 PMID:22661473 PMID:22968130 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23499370 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23918662 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24154662 PMID:24265693 PMID:24409374 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24632595 PMID:24713488 PMID:24763286 PMID:24938718 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097154 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25356976 PMID:25412400 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:25922843 PMID:26047050 PMID:26092729 PMID:26103963 PMID:26161775 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26551331 PMID:26593885 PMID:26743751 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27032803 PMID:27535533 PMID:27583828 PMID:27596865 PMID:27775217 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28355279 PMID:28446513 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29068140 PMID:29114839 PMID:29162642 PMID:29178665 PMID:29186038 PMID:29310964 PMID:29343940 PMID:29422768 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29847639 PMID:29847651 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30060493 PMID:30093795 PMID:30337596 PMID:30480703 PMID:30563929 PMID:30576320 PMID:30670881 PMID:30718709 PMID:30820146 PMID:30834176 PMID:30902645 PMID:30903310 PMID:31129250 PMID:31212395 PMID:31318848 PMID:31456290 PMID:31522899 PMID:31543898 PMID:31576780 PMID:31766579 PMID:31964843 PMID:32141364 PMID:32235935 PMID:32278709 PMID:32307445 PMID:32483926 PMID:32531858 PMID:32619608 PMID:32783370 PMID:32821503 PMID:32845050 PMID:33090715 PMID:33223529 PMID:33261146 PMID:33301772 PMID:33375396 PMID:33546218 PMID:33841504 PMID:34008892 PMID:34214897 PMID:34874912 PMID:34906470 PMID:35194496 PMID:35413457 PMID:35886001 PMID:36460718 PMID:36471740 PMID:36672815 PMID:36909829 PMID:36910710 PMID:38054408 PMID:92952680 More...
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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Adam9 |
ADAM metallopeptidase domain 9 |
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ISO |
Retinal atrophy - Cone-rod dystrophy 3 |
OMIA |
PMID:20691256 PMID:20806078 PMID:22065099 |
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NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 3 |
ClinVar |
PMID:25741868 PMID:26261414 PMID:26306921 PMID:27032803 PMID:28492532 PMID:28981474 PMID:31213501 PMID:32098976 PMID:35672425 PMID:36460718 PMID:37322672 More...
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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Pimreg |
PICALM interacting mitotic regulator |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 5 |
ClinVar |
PMID:25741868 |
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NCBI chr10:56,669,603...56,674,540
Ensembl chr10:56,669,675...56,674,791
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Pitpnm3 |
PITPNM family member 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8586428 PMID:17377520 PMID:22405330 PMID:25472526 PMID:25741868 PMID:27160483 PMID:28492532 PMID:30718709 PMID:32483926 More...
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NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
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Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
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NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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G |
Alox15b |
arachidonate 15-lipoxygenase, type B |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
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NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
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G |
Aloxe3 |
arachidonate epidermal lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
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NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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G |
Best1 |
bestrophin 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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G |
Cntrob |
centrobin, centriole duplication and spindle assembly protein |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
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Gucy2e |
guanylate cyclase 2E |
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ISO ISS |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: Retinal cone dystrophy 2 OMIM:601777 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 PMID:9683616 PMID:10636733 PMID:10676808 PMID:10766140 PMID:10951519 PMID:11035546 PMID:11115851 PMID:11328726 PMID:11565546 PMID:12325031 PMID:12552567 PMID:12623820 PMID:15024725 PMID:15123990 PMID:15175914 PMID:15504042 PMID:15691574 PMID:16123401 PMID:16199547 PMID:16205573 PMID:16505055 PMID:17525851 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18055820 PMID:18487367 PMID:19959640 PMID:20050595 PMID:20079931 PMID:20517349 PMID:20683928 PMID:21153841 PMID:21602930 PMID:22025579 PMID:22261762 PMID:22695961 PMID:23035049 PMID:23563732 PMID:23661368 PMID:23734073 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24875811 PMID:24997176 PMID:25097241 PMID:25477517 PMID:25741868 PMID:26047050 PMID:26100624 PMID:26253563 PMID:26298565 PMID:26352687 PMID:26626312 PMID:26806561 PMID:27375279 PMID:27422788 PMID:27703005 PMID:27881908 PMID:28041643 PMID:28224992 PMID:28341476 PMID:28492532 PMID:28838317 PMID:28966547 PMID:29061346 PMID:29068479 PMID:29178642 PMID:29440533 PMID:29555955 PMID:29559409 PMID:30319355 PMID:30653986 PMID:30718709 PMID:31144483 PMID:31456290 PMID:31630094 PMID:31704230 PMID:31964843 PMID:32141364 PMID:32165824 PMID:32483926 PMID:32821499 PMID:32865313 PMID:33109612 PMID:33546218 PMID:34008892 PMID:34048777 PMID:34906470 PMID:35567543 PMID:35836572 PMID:36274938 PMID:36284460 PMID:36819107 PMID:36909829 PMID:37734845 PMID:38540785 More...
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G |
Hes7 |
hes family bHLH transcription factor 7 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:28492532 |
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NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
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G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
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G |
Rims1 |
regulating synaptic membrane exocytosis 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 7 |
ClinVar |
PMID:9634506 PMID:12659814 PMID:18690027 PMID:23591405 PMID:25741868 PMID:27176872 PMID:28191889 PMID:28492532 PMID:33090715 PMID:35947379 More...
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NCBI chr 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631
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G |
Adam9 |
ADAM metallopeptidase domain 9 |
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ISO ISS |
OMIM:612775 ClinVar Annotator: match by term: Cone-rod dystrophy 9 |
OMIM MouseDO ClinVar |
PMID:9536098 PMID:11581183 PMID:17576681 PMID:19409519 PMID:25091951 PMID:25741868 PMID:28492532 More...
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NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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G |
Cep78 |
centrosomal protein 78 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss |
ClinVar |
PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 |
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NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
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Cep78 |
centrosomal protein 78 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 PMID:31999394 PMID:32531858 PMID:34259627 More...
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NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
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Cep250 |
centrosomal protein 250 |
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ISO |
ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:30459346 PMID:30998843 PMID:34223797 More...
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NCBI chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125
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Rims2 |
regulating synaptic membrane exocytosis 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod synaptic disorder syndrome, congenital nonprogressive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32470375 |
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NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
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Kif21a |
kinesin family member 21A |
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ISO |
DNA:missense mutation:CDS:2860C>T (p.R954W) (human) ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:24656932 PMID:25741868 PMID:28492532 PMID:39033378 PMID:14595441 More...
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RGD:1600402 |
NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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Phox2a |
paired-like homeobox 2a |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 |
OMIM CTD ClinVar |
PMID:11600883 PMID:25741868 |
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NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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Tubb3 |
tubulin, beta 3 class III |
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ISO |
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-related disorder | ClinVar Annotator: match by term: TUBB3-related tubulinopathy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20301522 PMID:20829227 PMID:23378218 PMID:24257358 PMID:24612975 PMID:25131622 PMID:25482575 PMID:25741868 PMID:26441521 PMID:26639658 PMID:26775887 PMID:27046833 PMID:28492532 PMID:28677066 PMID:29269699 PMID:29382549 PMID:29453417 PMID:29706646 PMID:30108342 PMID:31219644 PMID:31226147 PMID:31269740 PMID:32573066 PMID:34652576 PMID:34863918 PMID:39033378 More...
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NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Col25a1 |
collagen type XXV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 |
OMIM ClinVar |
PMID:25500261 PMID:25741868 PMID:31875546 |
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NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501
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Slc4a11 |
solute carrier family 4 member 11 |
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ISO ISS |
ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea | ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of the cornea OMIM:217700 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17397048 PMID:17576681 PMID:17679935 PMID:18024964 PMID:18474783 PMID:19369245 PMID:21203343 PMID:22072594 PMID:23615275 PMID:23922488 PMID:24033266 PMID:24916015 PMID:25500497 PMID:25741868 PMID:25741869 PMID:25811729 PMID:26619383 PMID:28492532 PMID:29327391 PMID:31323090 PMID:31691803 PMID:31714402 PMID:33541055 PMID:34637099 PMID:35985662 PMID:36115991 More...
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NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
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Fkrp |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement |
ClinVar |
PMID:25741868 |
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NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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