RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Hereditary Eye Diseases |
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Accession: | DOID:9002525
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browse the term
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Definition: | Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. |
Synonyms: | exact_synonym: | Hereditary Eye Disease |
| primary_id: | MESH:D015785 |
For additional species annotation, visit the
Alliance of Genome Resources.
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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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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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Guca1a |
guanylate cyclase activator 1A |
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ISO |
autosomal dominant cone dystrophy 3, OMIM:602093 |
RGD |
PMID:9425234 |
RGD:1599353 |
NCBI chr 9:13,587,695...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19668215 |
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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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LOC100912849 |
uncharacterized LOC100912849 |
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ISO |
autosomal dominant cone dystrophy 3, OMIM:602093 DNA:point mutation:exon:A319G -> amino acid Y99C |
RGD |
PMID:9425234 |
RGD:1599353 |
NCBI chr 9:13,560,663...13,582,987
Ensembl chr 9:13,560,876...13,582,814
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Lrat |
lecithin retinol acyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16968212 |
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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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Lrp2 |
LDL receptor related protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632512 |
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NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Ndp |
norrin cystine knot growth factor NDP |
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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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Plk4 |
polo-like kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25344692 |
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NCBI chr 2:123,802,512...123,820,942
Ensembl chr 2:123,802,512...123,820,942
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Rgs9 |
regulator of G-protein signaling 9 |
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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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Rlbp1 |
retinaldehyde binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16968212 |
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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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Rpe65 |
retinoid isomerohydrolase RPE65 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16968212 |
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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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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...17,571,871
Ensembl chr 7:17,521,919...17,571,839
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Gnat2 |
G protein subunit alpha transducin 2 |
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ISO |
ClinVar Annotator: match by term: Achromatopsia 4 |
OMIM ClinVar |
PMID:12077706 PMID:12205108 PMID:15557429 PMID:21107338 PMID:25741868 PMID:28492532 PMID:31058429 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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Pde6c |
phosphodiesterase 6C |
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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 1:235,909,473...235,965,460
Ensembl chr 1:235,909,775...235,965,315
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Aamp |
angio-associated, migratory cell protein |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
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Abcb6 |
ATP binding cassette subfamily B member 6 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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Ankzf1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469
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Arpc2 |
actin related protein 2/3 complex, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
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Asic4 |
acid sensing ion channel subunit family member 4 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
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Atg9a |
autophagy related 9A |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,677,403...76,688,035
Ensembl chr 9:76,677,404...76,687,986
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Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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Catip |
ciliogenesis associated TTC17 interacting protein |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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Cdk5r2 |
cyclin-dependent kinase 5 regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
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Cfap65 |
cilia and flagella associated protein 65 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
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Chpf |
chondroitin polymerizing factor |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
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Cnot9 |
CCR4-NOT transcription complex subunit 9 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
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Cnppd1 |
cyclin Pas1/PHO80 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
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Cryba2 |
crystallin, beta A2 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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Ctdsp1 |
CTD small phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
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Cxcr1 |
C-X-C motif chemokine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,768,124...75,771,122
Ensembl chr 9:75,766,770...75,771,084
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Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Des |
desmin |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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Dnpep |
aspartyl aminopeptidase |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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Fev |
FEV transcription factor, ETS family member |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
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Glb1l |
galactosidase, beta 1-like |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
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Gmppa |
GDP-mannose pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
OMIM 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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Gpbar1 |
G protein-coupled bile acid receptor 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
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Ihh |
Indian hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Mir26b |
microRNA 26b |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
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Mir375 |
microRNA 375 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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Nhej1 |
nonhomologous end-joining factor 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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Obsl1 |
obscurin like cytoskeletal adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
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Plcd4 |
phospholipase C, delta 4 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
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Pnkd |
PNKD metallo-beta-lactamase domain containing |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
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Prkag3 |
protein kinase AMP-activated non-catalytic subunit gamma 3 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
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Ptprn |
protein tyrosine phosphatase, receptor type, N |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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Resp18 |
regulated endocrine-specific protein 18 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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Retreg2 |
reticulophagy regulator family member 2 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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Rnf25 |
ring finger protein 25 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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Slc11a1 |
solute carrier family 11 member 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Slc23a3 |
solute carrier family 23, member 3 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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Speg |
striated muscle enriched protein kinase |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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Stk16 |
serine/threonine kinase 16 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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Stk36 |
serine/threonine kinase 36 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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Tmbim1 |
transmembrane BAX inhibitor motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
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Tmem198 |
transmembrane protein 198 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
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Ttll4 |
tubulin tyrosine ligase like 4 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
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Tuba4a |
tubulin, alpha 4A |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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Usp37 |
ubiquitin specific peptidase 37 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
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Vil1 |
villin 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Wnt6 |
Wnt family member 6 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
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Zfand2b |
zinc finger AN1-type containing 2B |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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Zfp142 |
zinc finger protein 142 |
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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 DNA:deletion:exon: |
OMIM ClinVar RGD |
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22194652 PMID:24124559 PMID:25741868 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:30718709 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:28041643 |
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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:28492532 PMID:28976636 PMID:29345414 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: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:20861488 PMID:21541274 PMID:22294196 PMID:23504663 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25741868 PMID:25919014 PMID:27734839 PMID:28041643 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:29345414 PMID:33223529 PMID:34008892 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 |
DNA:frameshift mutations, nonsense mutations ClinVar Annotator: match by term: Alstrom syndrome CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutations, missense mutations:multiple DNA:nonsense mutations, frameshift mutation, missense mutation:multiple |
ClinVar 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:18414213 PMID:19763152 PMID:20307669 PMID:21157496 PMID:21877133 PMID:21897446 PMID:21901789 PMID:21943378 PMID:22406018 PMID:22447358 PMID:22533542 PMID:22555271 PMID:22773737 PMID:22876109 PMID:23188138 PMID:23847139 PMID:24033266 PMID:24049434 PMID:24400638 PMID:24462884 PMID:24503146 PMID:24595103 PMID:24830966 PMID:25268133 PMID:25296579 PMID:25468891 PMID:25533962 PMID:25640679 PMID:25706677 PMID:25741868 PMID:25846608 PMID:25999675 PMID:26010121 PMID:26047050 PMID:26077327 PMID:26082521 PMID:26104972 PMID:26111748 PMID:26239645 PMID:26283575 PMID:26285675 PMID:26467025 PMID:26566502 PMID:26633542 PMID:26636822 PMID:26992781 PMID:27178444 PMID:27523285 PMID:27665122 PMID:28402684 PMID:28432734 PMID:28492532 PMID:28502102 PMID:28717663 PMID:29079548 PMID:29193673 PMID:29345162 PMID:29588463 PMID:29610177 PMID:29715191 PMID:30029497 PMID:30064963 PMID:30311386 PMID:30488743 PMID:31607746 PMID:31630094 PMID:31638414 PMID:31755649 PMID:31810438 PMID:32531870 PMID:32581362 PMID:32944671 PMID:32973878 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 |
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 |
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 2:214,775,483...214,853,655
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 3:92,718,047...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: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...92,450,557
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 2:216,092,641...216,095,276
Ensembl chr 2:216,093,363...216,094,154
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G |
Pax6 |
paired box 6 |
susceptibility |
ISO |
DNA:mutations:exon, intron:multiple (human) 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) |
ClinVar CTD RGD |
PMID:9931324 PMID:17417613 PMID:18322702 PMID:18776953 PMID:25741868 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 |
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NCBI chr 2:117,536,929...117,539,338
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 3:88,597,962...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 |
|
ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:12634864 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
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NCBI chr 3:92,718,047...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:12634864 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 |
|
ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12634864 PMID:12731001 PMID:15150775 PMID:16098226 PMID:17630404 PMID:18483559 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 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 |
|
ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:10737978 PMID:11284764 PMID:12634864 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...92,450,557
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:1954207 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9281415 PMID:9452088 PMID:9482572 PMID:9536098 PMID:9651515 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15086958 PMID:15150775 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16199547 PMID:16493447 PMID:16617299 PMID:16712695 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17576681 PMID:17595013 PMID:17630404 PMID:18241071 PMID:18332330 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:22509105 PMID:22692063 PMID:23404109 PMID:23734086 PMID:23761016 PMID:23942204 PMID:24138039 PMID:24390526 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26535646 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27013732 PMID:27081502 PMID:27081561 PMID:27124303 PMID:27307692 PMID:27431685 PMID:27455012 PMID:27463523 PMID:28166811 PMID:28231309 PMID:28321846 PMID:28488383 PMID:28492532 PMID:28559085 PMID:29217025 PMID:29618921 PMID:29780932 PMID:30167917 PMID:30291432 PMID:32360764 PMID:32860008 PMID:34174135 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 |
|
ISO |
ClinVar Annotator: match by term: Aniridia 1 |
ClinVar |
PMID:12634864 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:8975729 PMID:9090524 PMID:12634864 PMID:15150775 PMID:17630404 PMID:23349334 PMID:24138039 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25741868 PMID:26661695 PMID:27124303 PMID:28492532 PMID:30406062 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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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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Trim44 |
tripartite motif-containing 44 |
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ISO |
ClinVar Annotator: match by term: Aniridia 3 |
OMIM ClinVar |
PMID:25741868 PMID:26394807 |
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NCBI chr 3:88,597,962...88,729,085
Ensembl chr 3:88,592,719...88,729,188
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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: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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Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
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:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 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:31061747 PMID:31436889 PMID:32010037 PMID:32347949 PMID:33654647 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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Fdxr |
ferredoxin reductase |
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ISO |
ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY |
OMIM ClinVar |
PMID:6766943 PMID:24033266 PMID:25741868 PMID:28965846 PMID:29040572 |
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NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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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 |
OMIM ClinVar |
PMID:9536098 PMID:10453731 PMID:10798642 PMID:10854112 PMID:11585313 PMID:11713080 PMID:12543751 PMID:13534955 PMID:14615048 PMID:15452077 PMID:16754206 PMID:17110374 PMID:17576681 PMID:17898294 PMID:18179881 PMID:18611979 PMID:21072067 PMID:21109774 PMID:21192766 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23290749 PMID:24033266 PMID:25741868 PMID:26200502 PMID:26333019 PMID:26771239 PMID:27519691 PMID:27764019 PMID:28492532 PMID:28559085 PMID:28687848 PMID:29063836 PMID:29068140 PMID:29976937 PMID:30498755 PMID:30718709 PMID:33546218 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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Fth1 |
ferritin heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy |
ClinVar |
PMID:10453731 PMID:11713080 PMID:14615048 PMID:17898294 PMID:25741868 PMID:28492532 PMID:28687848 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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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 |
OMIM ClinVar |
PMID:10521293 PMID:10679252 PMID:11295831 PMID:15605410 PMID:16648378 PMID:16806192 PMID:17492394 PMID:18544103 PMID:19877185 PMID:20069065 PMID:20301750 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21538838 PMID:21917145 PMID:22238590 PMID:24033266 PMID:24890733 PMID:25133958 PMID:25211237 PMID:25388789 PMID:25741868 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:27217304 PMID:27395765 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:29529044 PMID:30311386 PMID:30773290 PMID:31264968 PMID:32219690 PMID:32567228 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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Cfh |
complement factor H |
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ISO |
ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED |
OMIM ClinVar |
PMID:8072530 PMID:9536098 PMID:11158219 PMID:11978762 PMID:12424708 PMID:12697737 PMID:15761120 PMID:15761121 PMID:15761122 PMID:15870199 PMID:15895326 PMID:16229850 PMID:16299065 PMID:16338962 PMID:16601698 PMID:16619239 PMID:16630992 PMID:16710702 PMID:16787919 PMID:16816528 PMID:16936733 PMID:17018561 PMID:17079491 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: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:23431077 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:26826462 PMID:27718086 PMID:28492532 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29888403 PMID:30560448 PMID:31447099 PMID:33519811 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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Best1 |
bestrophin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy |
OMIM ClinVar |
PMID:2133066 PMID:2162627 PMID:9700209 PMID:10788642 PMID:10798642 PMID:10854112 PMID:16754206 PMID:17110374 PMID:17287362 PMID:18179881 PMID:18985398 PMID:20927214 PMID:21109774 PMID:21192766 PMID:21269699 PMID:21273940 PMID:21330666 PMID:21412020 PMID:21738390 PMID:21809908 PMID:21825197 PMID:21878505 PMID:22183385 PMID:22422030 PMID:23290749 PMID:23572118 PMID:23825107 PMID:24033266 PMID:24560797 PMID:25489231 PMID:25741868 PMID:26200502 PMID:26201355 PMID:26333019 PMID:26720466 PMID:27519691 PMID:27764019 PMID:28041643 PMID:28492532 PMID:28687848 PMID:29063836 PMID:29507198 PMID:29555955 PMID:29668979 PMID:29781975 PMID:30498755 PMID:30578502 PMID:30593719 PMID:30718709 PMID:32141364 PMID:33546218 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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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 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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Fth1 |
ferritin heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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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 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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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: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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Cyp4v3 |
cytochrome P450, family 4, subfamily v, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy |
OMIM ClinVar |
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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Klkb1 |
kallikrein B1 |
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ISO |
ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy |
ClinVar |
PMID:17962476 |
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NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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Foxl2 |
forkhead box L2 |
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ISO |
CTD Direct Evidence: marker/mechanism 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:18372316 PMID:20429427 PMID:21889601 PMID:25741868 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 |
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ISO |
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:18372316 PMID:21325395 PMID:25741868 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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Copb2 |
COPI coat complex subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Foxl2 |
forkhead box L2 |
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ISO |
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 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:19429596 PMID:25741868 PMID:28492532 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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Fam172a |
family with sequence similarity 172, member 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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Nr2f1 |
nuclear receptor subfamily 2, group F, member 1 |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
OMIM ClinVar |
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:25741879 PMID:26138355 PMID:26350515 PMID:26986877 PMID:28963436 PMID:29410510 PMID:31393201 PMID:31729143 PMID:32712214 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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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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RGD1560883 |
similar to KIAA0825 protein |
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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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Rlbp1 |
retinaldehyde binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY |
OMIM ClinVar |
PMID:10102298 PMID:10102299 PMID:11449319 PMID:12536144 PMID:15953459 PMID:19846785 PMID:20238024 PMID:22171637 PMID:22183382 PMID:25326637 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28492532 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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Rgs9 |
regulator of G-protein signaling 9 |
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ISO |
ClinVar Annotator: match by term: Bradyopsia |
OMIM ClinVar |
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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Rgs9bp |
regulator of G protein signaling 9 binding protein |
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ISO |
ClinVar Annotator: match by term: Bradyopsia |
OMIM 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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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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Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
susceptibility |
ISO |
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 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 RGD |
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:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17363580 PMID:17563717 PMID:17576681 PMID:17591938 PMID:17718864 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:24940937 PMID:25091052 PMID:25109919 PMID:25333069 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550974 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29556725 PMID:30653986 PMID:30662834 PMID:30788381 PMID:32224865 PMID:32499604 PMID:32832252 PMID:32860008 PMID:94927261 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 |
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: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 |
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:21972112 PMID:25741868 PMID:28492532 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 |
OMIM ClinVar |
PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 PMID:20565250 PMID:21972112 PMID:25741868 PMID:28492532 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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G |
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 |
OMIM ClinVar |
PMID:15914629 PMID:19182255 PMID:23508780 PMID:24940039 PMID:25741868 PMID:26694549 PMID:27307692 PMID:28492532 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 |
ClinVar Annotator: match by term: Cavitary optic disc anomalies |
OMIM ClinVar |
PMID:10764862 PMID:25581579 PMID:25741868 |
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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 |
OMIM ClinVar |
PMID:17701900 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 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: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 |
Arid4b |
AT-rich interaction domain 4B |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:51,138,419...51,262,956
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: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 |
Coa6 |
cytochrome c oxidase assembly factor 6 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407
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G |
Edaradd |
EDAR-associated death domain |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
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 |
Ero1b |
endoplasmic reticulum oxidoreductase 1 beta |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
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: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: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:28492532 |
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NCBI chr17:86,003,630...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:28492532 |
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NCBI chr17:58,051,700...58,093,895
Ensembl chr17:58,051,700...58,093,948
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G |
Irf2bp2 |
interferon regulatory factor 2 binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr19:54,559,409...54,564,714
Ensembl chr19:54,560,128...54,566,642
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G |
Lgals8 |
galectin 8 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
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 |
Lyst |
lysosomal trafficking regulator |
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IAGP ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar 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:21878672 PMID:23436631 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25640679 PMID:25741868 PMID:26193622 PMID:26597256 PMID:26915675 PMID:27781387 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28458669 PMID:28492532 PMID:30383631 PMID:30899265 PMID:31906877 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 |
Mt1m |
metallothionein 1M |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr20:3,159,023...3,159,401
Ensembl chr 5:119,728,811...119,730,073 Ensembl chr19:119,728,811...119,730,073
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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G |
Nid1 |
nidogen 1 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:86,085,046...86,158,277
Ensembl chr17:86,085,077...86,158,267
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G |
Rbm34 |
RNA binding motif protein 34 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
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 |
Ryr2 |
ryanodine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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G |
Tarbp1 |
TAR (HIV-1) RNA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261
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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: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 |
Tomm20 |
translocase of outer mitochondrial membrane 20 |
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ISO |
ClinVar Annotator: match by term: Chédiak-Higashi syndrome |
ClinVar |
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 |
Chm |
CHM Rab escort protein |
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ISO |
ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type |
OMIM 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:21905166 PMID:22957832 PMID:23811034 PMID:25741868 PMID:25912515 PMID:26133251 PMID:27247961 PMID:28041643 PMID:28098911 PMID:28492532 PMID:28559085 PMID:30995293 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 |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
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 |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 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 |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:23349334 PMID:25741868 PMID:28492532 |
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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 |
Rp2 |
RP2 activator of ARL3 GTPase |
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ISO |
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OMIM |
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NCBI chr X:1,872,581...1,916,704
Ensembl chr X:1,873,306...1,916,688
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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 |
OMIM ClinVar |
PMID:27889061 PMID:30311386 PMID:34599368 |
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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: Bull's eye maculopathy | 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: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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G |
Crx |
cone-rod homeobox |
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ISO |
ClinVar Annotator: match by term: Benign concentric annular macular dystrophy |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25259927 PMID:28492532 |
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NCBI chr 1:76,540,141...76,545,818
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 |
OMIM ClinVar |
PMID:4412179 PMID:14691150 PMID:25741868 PMID:28492532 PMID:32817297 |
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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 |
OMIM ClinVar |
PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 PMID:19887631 PMID:21127010 PMID:23776498 PMID:25326637 PMID:25741868 PMID:26103963 PMID:27124789 PMID:28041643 PMID:28492532 PMID:30080950 PMID:33546218 More...
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NCBI chr 1:235,909,473...235,965,460
Ensembl chr 1:235,909,775...235,965,315
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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 |
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:11527935 PMID:11702214 PMID:11726554 PMID:11857735 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12796258 PMID:14517951 PMID:14971589 PMID:15108289 PMID:15192030 PMID:15494742 PMID:15516930 PMID:16103129 PMID:16123440 PMID:16199547 PMID:16303926 PMID:16400609 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:22449572 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:23940504 PMID:23949494 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24453473 PMID:24713488 PMID:24938718 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25444351 PMID:25472526 PMID:25474345 PMID:25640233 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:26103963 PMID:26247787 PMID:26527198 PMID:26593885 PMID:26780318 PMID:26872967 PMID:27014590 PMID:27535533 PMID:27628848 PMID:27739528 PMID:27820952 PMID:28041643 PMID:28118664 PMID:28166811 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29310964 PMID:29555955 PMID:29847635 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30480703 PMID:30718709 PMID:31015497 PMID:31212395 PMID:31576780 PMID:31814694 PMID:32307445 PMID:32619608 PMID:33223529 PMID:33546218 PMID:34008892 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 degeneration |
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: Rod-cone dystrophy |
ClinVar |
PMID:15322546 PMID:16155189 PMID:16453322 PMID:25525159 PMID:25616960 PMID:25741868 PMID:26092869 PMID:28118669 PMID:28492532 More...
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NCBI chr 1:15,768,047...15,886,744
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 degeneration |
ClinVar |
PMID:17594715 PMID:26047050 PMID:26077327 PMID:28492532 PMID:29588463 |
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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 degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:19074807 PMID:23714322 PMID:25307992 PMID:28492532 PMID:29525873 PMID:30718709 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:28492532 PMID:30718709 |
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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 |
Cdhr1 |
cadherin-related family member 1 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:16199547 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:32681094 PMID:33546218 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:25377065 PMID:25741868 PMID:28492532 PMID:28559085 PMID:29641573 PMID:30193310 PMID:30718709 PMID:32865313 More...
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NCBI chr 7:35,310,071...35,399,392
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 |
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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:21151602 PMID:22164218 PMID:24043777 PMID:24123366 PMID:24625443 PMID:25097241 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28492532 PMID:30718709 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 chr19:9,608,851...9,622,562
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 degeneration |
ClinVar |
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 |
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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 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 degeneration |
ClinVar |
PMID:11536077 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30289319 |
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NCBI chr 9:39,447,532...39,497,883
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:11124331 PMID:12815043 PMID:14757870 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28166811 PMID:28492532 PMID:28795510 PMID:30718709 PMID:32860008 PMID:33546218 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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G |
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 dystrophy |
ClinVar RGD |
PMID:25741868 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 |
|
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:26992781 PMID:28492532 PMID:30718709 PMID:31626798 PMID:32533067 |
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NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
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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:24651477 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26574802 PMID:28492532 PMID:30718709 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 |
Gphn |
gephyrin |
|
ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28492532 PMID:32014858 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 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:13,587,695...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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G |
Gucy2d |
guanylate cyclase 2D, retinal |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30319355 |
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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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G |
Ift88 |
intraflagellar transport 88 |
|
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 |
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:26092869 PMID:28492532 PMID:28559085 PMID:29186038 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 |
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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 |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Cone-rod 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 |
Mir103a2 |
microRNA 103a-2 |
|
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: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:24088041 PMID:25741868 PMID:26633545 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 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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G |
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:15453866 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 PMID:19718767 PMID:21217109 PMID:23039133 PMID:23591405 PMID:23989059 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:26894784 PMID:27573156 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28771251 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30324420 PMID:30718709 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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G |
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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G |
Pcare |
photoreceptor cilium actin regulator |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:20398886 PMID:24339724 PMID:26496393 PMID:28492532 PMID:28763557 |
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NCBI chr 6:23,749,700...23,758,419
Ensembl chr 6:23,749,757...23,758,169
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G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:8394174 PMID:8595886 PMID:9238087 PMID:22334370 PMID:23105016 PMID:24828262 PMID:25525159 PMID:25741868 PMID:27588261 PMID:28492532 PMID:30718709 More...
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NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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G |
Pde6c |
phosphodiesterase 6C |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:235,909,473...235,965,460
Ensembl chr 1:235,909,775...235,965,315
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G |
Pitpnm3 |
PITPNM family member 3 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant |
ClinVar |
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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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
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 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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G |
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 7:33,924,035...34,025,908
Ensembl chr 7:33,924,189...34,025,903
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G |
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:23591405 PMID:23757202 PMID:24154662 PMID:24474277 PMID:25474345 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26261540 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28492532 PMID:31199449 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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G |
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 dystrophy |
ClinVar |
PMID:7493155 PMID:8015786 PMID:8302543 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:16799052 PMID:16885924 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:26103963 PMID:26155838 PMID:26161267 PMID:26667666 PMID:26842753 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 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 |
Rab28 |
RAB28, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:23746546 |
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NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967
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G |
Rdh12 |
retinol dehydrogenase 12 |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28492532 PMID:32014858 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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G |
RGD1307947 |
similar to RIKEN cDNA C430008C19 |
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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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G |
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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G |
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...25,196,368
Ensembl chr 9:24,698,854...25,196,631
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G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
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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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G |
Rpgr |
retinitis pigmentosa GTPase regulator |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
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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G |
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 degeneration | 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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G |
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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G |
Sema4a |
semaphorin 4A |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
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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G |
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 |
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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G |
Ttll5 |
tubulin tyrosine ligase like 5 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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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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G |
Unc119 |
unc-119 lipid binding chaperone |
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ISO |
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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G |
Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
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: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:26633545 PMID:26872967 PMID:26927203 PMID:27208204 PMID:27460420 PMID:27957503 PMID:28041643 PMID:28492532 PMID:28512305 PMID:29293505 PMID:29953849 PMID:30718709 PMID:31836858 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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G |
Pde6b |
phosphodiesterase 6B |
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ISO |
Cone-rod dystrophy 1 |
OMIA |
PMID:15064680 PMID:22065099 PMID:24045995 |
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NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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G |
Sema4a |
semaphorin 4A |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 10 |
OMIM ClinVar |
PMID:16199541 PMID:24033266 PMID:25307848 PMID:25741868 PMID:26103963 PMID:28492532 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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G |
Prom1 |
prominin 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 12 |
OMIM ClinVar |
PMID:10205271 PMID:12657606 PMID:16199547 PMID:17605048 PMID:18654668 PMID:19718270 PMID:20393116 PMID:20554613 PMID:20859302 PMID:22183351 PMID:22581970 PMID:23591405 PMID:24154662 PMID:24265693 PMID:24474277 PMID:25356976 PMID:25474345 PMID:25741868 PMID:25910913 PMID:25999674 PMID:26103963 PMID:26161267 PMID:26261540 PMID:26355662 PMID:26393467 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28095140 PMID:28492532 PMID:28559085 PMID:29555955 PMID:29847639 PMID:30718709 PMID:31199449 PMID:33546218 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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G |
Chd8 |
chromodomain helicase DNA binding protein 8 |
|
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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Mettl3 |
methyltransferase-like 3 |
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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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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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Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 13 |
OMIM ClinVar |
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:17576681 PMID:17964524 PMID:18055816 PMID:18682808 PMID:20079931 PMID:21153841 PMID:21224891 PMID:21602930 PMID:21857984 PMID:22025579 PMID:22261762 PMID:22277662 PMID:23105016 PMID:23213406 PMID:23505306 PMID:23847139 PMID:24123792 PMID:24265693 PMID:24997176 PMID:25326637 PMID:25445212 PMID:25640679 PMID:25741868 PMID:26047050 PMID:26355662 PMID:26667666 PMID:26872967 PMID:26893459 PMID:27884173 PMID:28041643 PMID:28378820 PMID:28456785 PMID:28492532 PMID:28559085 PMID:28714225 PMID:29178642 PMID:29343940 PMID:29754767 PMID:29844330 PMID:30072743 PMID:30202406 PMID:30576320 PMID:31456290 PMID:31630094 PMID:32860008 PMID:32865313 PMID:33670832 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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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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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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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-ROD DYSTROPHY 14 | ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30718709 |
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NCBI chr 4:152,408,657...152,524,614
Ensembl chr 4:152,408,657...152,521,268
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Guca1a |
guanylate cyclase activator 1A |
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ISO |
ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14 | ClinVar Annotator: match by term: Cone dystrophy 3 |
OMIM ClinVar |
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:24875811 PMID:25741868 PMID:26358777 PMID:26766544 PMID:28025326 PMID:28041643 PMID:28166811 PMID:28442884 PMID:28492532 PMID:28559085 PMID:29555955 PMID:30184081 PMID:30622141 PMID:30718709 PMID:31728034 PMID:31979372 PMID:32025184 PMID:33546218 More...
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NCBI chr 9:13,587,695...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: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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Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
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ISO |
ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14 |
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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LOC100912849 |
uncharacterized LOC100912849 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
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NCBI chr 9:13,560,663...13,582,987
Ensembl chr 9:13,560,876...13,582,814
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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 |
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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: Cone-rod dystrophy 15 | ClinVar Annotator: match by term: Retinitis pigmentosa 65 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20087419 PMID:20805371 PMID:23044944 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:32681094 PMID:33546218 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 |
ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: Retinitis pigmentosa 64 |
OMIM ClinVar |
PMID:22177090 PMID:25741868 PMID:25802487 PMID:26355662 PMID:26854863 PMID:26865426 PMID:27008867 PMID:28492532 PMID:29843741 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 |
ClinVar Annotator: match by term: Cone-rod dystrophy 18 |
OMIM 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 |
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:25741868 |
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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 |
ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 |
OMIM ClinVar |
PMID:9390563 PMID:9427255 PMID:9792858 PMID:10766140 PMID:10916183 PMID:11139241 PMID:11748859 PMID:11971869 PMID:15531334 PMID:16123401 PMID:17964524 PMID:18682808 PMID:22960069 PMID:23049240 PMID:24265693 PMID:25741868 PMID:26161267 PMID:26355662 PMID:28492532 PMID:29068479 PMID:30543658 PMID:30718709 PMID:31215831 PMID:33546218 More...
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NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
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Iqcb1 |
IQ motif containing B1 |
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ISO |
Cone-rod dystrophy 2 |
OMIA |
PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:33781914 |
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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:25741868 PMID:25999674 PMID:26103963 PMID:26153215 PMID:26261540 PMID:27874104 PMID:28041643 PMID:28492532 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 More...
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NCBI chr 7:33,924,035...34,025,908
Ensembl chr 7:33,924,189...34,025,903
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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 |
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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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RGD1563217 |
similar to RIKEN cDNA 4930451I11 |
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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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Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 3 |
OMIM ClinVar |
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:10612508 PMID:10634594 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11379881 PMID:11385708 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:15161829 PMID:15192030 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16123440 PMID:16303926 PMID:16400609 PMID:16546111 PMID:16682602 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17576681 PMID:17982420 PMID:18285826 PMID:18414213 PMID:18652558 PMID:18854780 PMID:18977788 PMID:19074458 PMID:19217903 PMID:20554613 PMID:20647261 PMID:20696155 PMID:20981092 PMID:21330655 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 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:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 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:25097241 PMID:25283059 PMID:25312043 PMID:25326637 PMID:25333069 PMID:25412400 PMID:25472526 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:26161775 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27032803 PMID:27535533 PMID:27583828 PMID:27775217 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28166811 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28446513 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29114839 PMID:29162642 PMID:29310964 PMID:29343940 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29847639 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30060493 PMID:30093795 PMID:30480703 PMID:30576320 PMID:30718709 PMID:31129250 PMID:31318848 PMID:31576780 PMID:32141364 PMID:32235935 PMID:32307445 PMID:33090715 PMID:33223529 PMID:33546218 PMID:34008892 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 |
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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Pimreg |
PICALM interacting mitotic regulator |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 5 |
ClinVar |
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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 |
OMIM ClinVar |
PMID:8586428 PMID:17377520 PMID:22405330 PMID:25741868 PMID:28492532 PMID:30718709 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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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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Aloxe3 |
arachidonate 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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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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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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Gucy2d |
guanylate cyclase 2D, retinal |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: Retinal cone dystrophy 2 |
OMIM ClinVar |
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:15024725 PMID:15111605 PMID:15175914 PMID:15504042 PMID:16123401 PMID:16199547 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:22695961 PMID:23035049 PMID:23563732 PMID:23661368 PMID:23734073 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24875811 PMID:24997176 PMID:25477517 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26298565 PMID:26352687 PMID:26355662 PMID:26626312 PMID:27375279 PMID:27422788 PMID:27703005 PMID:27881908 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28838317 PMID:28966547 PMID:29061346 PMID:29068479 PMID:29178642 PMID:29440533 PMID:29555955 PMID:29559409 PMID:30319355 PMID:30718709 PMID:31630094 PMID:32165824 PMID:32821499 PMID:33546218 PMID:34008892 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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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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Rims1 |
regulating synaptic membrane exocytosis 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 7 |
OMIM ClinVar |
PMID:9634506 PMID:12659814 PMID:18690027 PMID:23591405 PMID:25741868 PMID:27176872 PMID:28166811 PMID:28492532 More...
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NCBI chr 9:24,696,959...25,196,368
Ensembl chr 9:24,698,854...25,196,631
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Adam9 |
ADAM metallopeptidase domain 9 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 9 |
OMIM 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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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:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 PMID:31999394 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: Cone-rod dystrophy and hearing loss 2 |
OMIM ClinVar |
PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:30459346 PMID:30998843 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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G |
Rims2 |
regulating synaptic membrane exocytosis 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod synaptic disorder syndrome, congenital nonprogressive |
ClinVar OMIM |
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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G |
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 OMIM RGD |
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:25741868 PMID:28492532 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 |
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 |
OMIM ClinVar |
PMID:11600883 |
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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: FEOM3 LOCUS | 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 |
OMIM ClinVar |
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20301522 PMID:20829227 PMID:23378218 PMID:24612975 PMID:25741868 PMID:26639658 PMID:26775887 PMID:27046833 PMID:28492532 PMID:29269699 PMID:29706646 PMID:34863918 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 |
ClinVar OMIM |
PMID:25500261 |
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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 |
ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea |
OMIM ClinVar |
PMID:9536098 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17397048 PMID:17576681 PMID:17679935 PMID:18024964 PMID:18474783 PMID:22072594 PMID:23615275 PMID:23922488 PMID:24033266 PMID:24916015 PMID:25741868 PMID:26619383 PMID:28492532 PMID:29327391 PMID:31323090 PMID:31691803 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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Vsx1 |
visual system homeobox 1 |
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ISO |
ClinVar Annotator: match by term: CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL |
ClinVar |
PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:19763142 PMID:21976959 PMID:24033266 PMID:28492532 More...
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NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
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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 |
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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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Fktn |
fukutin |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement |
ClinVar |
PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:30060766 PMID:34008892 More...
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NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Gmppb |
GDP-mannose pyrophosphorylase B |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28456886 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30069288 PMID:30257713 PMID:30684953 PMID:31211170 PMID:34008892 More...
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NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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Ankmy2 |
ankyrin repeat and MYND domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:52,888,963...52,930,341
Ensembl chr 6:52,888,963...52,930,394
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Bzw2 |
basic leucine zipper and W2 domains 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628
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Crppa |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: ISPD-Related Disorder | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
OMIM ClinVar |
PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:9536098 PMID:10738921 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 PMID:24033266 PMID:24120487 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26404900 PMID:26467025 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 More...
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NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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Lrrc72 |
leucine rich repeat containing 72 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:52,935,387...52,995,552
Ensembl chr 6:52,935,387...52,995,540
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Sostdc1 |
sclerostin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:53,051,336...53,055,510
Ensembl chr 6:53,051,354...53,055,579
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Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies |
ClinVar |
PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 More...
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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Tspan1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies |
ClinVar |
PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 More...
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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B4gat1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
ClinVar |
PMID:23877401 PMID:25558065 |
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NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Fkrp |
fukutin related protein |
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ISS ISO |
OMIM:236670 ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
MouseDO ClinVar |
PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18645206 PMID:19155270 PMID:19244252 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20623375 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27302555 PMID:27439679 PMID:27671536 PMID:27848944 PMID:28112097 PMID:28479227 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:34008892 PMID:34653404 More...
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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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Fktn |
fukutin |
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ISS ISO |
OMIM:236670 ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
MouseDO ClinVar |
PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 PMID:14627679 PMID:17034757 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:30060766 PMID:32969603 PMID:33048919 PMID:34008892 PMID:34120883 More...
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NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Large1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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ISS |
OMIM:236670 |
MouseDO |
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NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
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Pomt1 |
protein-O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED |
OMIM ClinVar |
PMID:9536098 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15037715 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:17559086 PMID:17576681 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:19519795 PMID:22323514 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25267602 PMID:25326635 PMID:25741868 PMID:25898921 PMID:26245304 PMID:26467025 PMID:27884173 PMID:28097321 PMID:28116189 PMID:28492532 PMID:28556411 PMID:30426380 PMID:31319225 PMID:32860008 More...
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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Pomt2 |
protein-O-mannosyltransferase 2 |
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ISS ISO |
OMIM:236670 ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
MouseDO ClinVar |
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 More...
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NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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Rxylt1 |
ribitol xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 PMID:24033266 PMID:25640679 PMID:25741868 PMID:27733679 PMID:28492532 PMID:31742715 More...
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NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
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B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23453667 PMID:24084573 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25741868 PMID:28492532 PMID:29273094 PMID:29302074 PMID:31428121 PMID:33290285 More...
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NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Tbce |
tubulin folding cofactor E |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 |
ClinVar |
PMID:23453667 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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Fnta |
farnesyltransferase, CAAX box, alpha |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
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Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
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Hook3 |
hook microtubule-tethering protein 3 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
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Pomk |
protein-O-mannose kinase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 PMID:29910097 PMID:30060766 More...
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NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
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Rnf170 |
ring finger protein 170 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
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Thap1 |
THAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
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B4gat1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
OMIM ClinVar |
PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 |
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NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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Pomt2 |
protein-O-mannosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED |
OMIM ClinVar |
PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 PMID:17576681 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22700954 PMID:22958903 PMID:24002165 PMID:24033266 PMID:25267602 PMID:25741868 PMID:26467025 PMID:26495167 PMID:27854218 PMID:27894351 PMID:28492532 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 PMID:30091983 PMID:32528171 PMID:33200426 PMID:34413876 More...
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NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
OMIM ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23894383 PMID:24033266 PMID:24123366 PMID:25333069 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 PMID:33200426 PMID:34324503 More...
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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G |
Tspan1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23894383 PMID:24033266 PMID:24123366 PMID:25333069 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 PMID:33200426 PMID:34324503 More...
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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Fkrp |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 |
OMIM ClinVar |
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:12707439 PMID:14647208 PMID:14652796 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17554798 PMID:17559086 PMID:17952692 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18671187 PMID:18752264 PMID:19155270 PMID:19244252 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:20236121 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28479227 PMID:28492532 PMID:28931339 PMID:30564623 PMID:30919934 PMID:31268217 PMID:34008892 PMID:34653404 More...
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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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G |
Strn4 |
striatin 4 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858
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Large1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 |
OMIM ClinVar |
PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
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G |
Abhd5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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G |
Ackr2 |
atypical chemokine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,559,563...121,573,633
Ensembl chr 8:121,561,211...121,573,582
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G |
Ano10 |
anoctamin 10 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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G |
Ccdc13 |
coiled-coil domain containing 13 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,455,202...121,507,487
Ensembl chr 8:121,457,697...121,502,337
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G |
Cck |
cholecystokinin |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Cyp8b1 |
cytochrome P450 family 8 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
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Gask1a |
golgi associated kinase 1A |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,610,779...121,643,742
Ensembl chr 8:121,610,787...121,642,942
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G |
Hhatl |
hedgehog acyltransferase-like |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,447,001...121,454,070
Ensembl chr 8:121,447,002...121,454,001
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G |
Higd1a |
HIG1 hypoxia inducible domain family, member 1A |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,514,152...121,523,382
Ensembl chr 8:121,514,156...121,523,443
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G |
Klhl40 |
kelch-like family member 40 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,441,275...121,446,806
Ensembl chr 8:121,441,287...121,446,800
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G |
Krbox1 |
KRAB box domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,597,254...121,604,048
Ensembl chr 8:121,597,319...121,604,027
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G |
Lyzl4 |
lysozyme-like 4 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,248,129...121,255,372
Ensembl chr 8:121,248,168...121,255,353
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G |
Nktr |
natural killer cell triggering receptor |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,380,010...121,420,495
Ensembl chr 8:121,382,436...121,418,314
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G |
Pomgnt2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
OMIM ClinVar |
PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 PMID:27066570 PMID:28492532 PMID:31130284 More...
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NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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G |
Sec22c |
SEC22 homolog C, vesicle trafficking protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,345,839...121,371,509
Ensembl chr 8:121,350,107...121,370,925
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G |
Snrk |
SNF related kinase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,779,704...121,833,949
Ensembl chr 8:121,793,302...121,832,323
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G |
Ss18l2 |
SS18 like 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,375,249...121,377,877
Ensembl chr 8:121,375,308...121,377,877
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G |
Trak1 |
trafficking kinesin protein 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367
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G |
Ulk4 |
unc-51 like kinase 4 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924
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G |
Vipr1 |
vasoactive intestinal peptide receptor 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585
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G |
Zbtb47 |
zinc finger and BTB domain containing 47 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,420,758...121,434,365
Ensembl chr 8:121,423,696...121,433,225
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G |
Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
OMIM ClinVar |
PMID:24033266 PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 PMID:29485843 More...
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness |
ClinVar |
PMID:12515255 PMID:28041643 |
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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 |
Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness |
ClinVar |
PMID:25741868 PMID:28492532 |
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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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Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO IAGP |
ClinVar Annotator: match by term: Congenital stationary night blindness DNA:mutation:cds: c.2941C>T (rat) CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9662399 PMID:9662400 PMID:11281458 PMID:17525176 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26992781 PMID:28041643 PMID:28492532 PMID:30825406 PMID:12111638 PMID:18246026 More...
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RGD:734671, RGD:13782370 |
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Cacna1f csnb |
calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant |
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IAGP |
DNA:mutation:cds: c.2941C>T (rat) |
RGD |
PMID:18246026 |
RGD:13782370 |
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G |
Gnat1 |
G protein subunit alpha transducin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
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G |
Gnb3 |
G protein subunit beta 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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G |
Gpr179 |
G protein-coupled receptor 179 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness |
CTD ClinVar |
PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 More...
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NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
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G |
Grk1 |
G protein-coupled receptor kinase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness |
ClinVar |
PMID:30718709 |
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NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792
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G |
Grm6 |
glutamate metabotropic receptor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital stationary night blindness |
CTD ClinVar |
PMID:16249515 PMID:17405131 PMID:19666700 PMID:22008250 PMID:24715752 PMID:26628857 PMID:28041643 PMID:28492532 PMID:30718709 More...
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NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
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G |
Lrit3 |
leucine-rich repeat, Ig-like and transmembrane domains 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307
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G |
Nyx |
nyctalopin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital stationary night blindness | ClinVar Annotator: match by term: X-linked congenital stationary night blindness |
CTD ClinVar |
PMID:25307992 PMID:28492532 |
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NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
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G |
Pde6b |
phosphodiesterase 6B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant | ClinVar Annotator: match by term: Congenital stationary night blindness |
CTD ClinVar |
PMID:8075643 PMID:28492532 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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G |
Rho |
rhodopsin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant |
CTD ClinVar |
PMID:8358437 PMID:28492532 |
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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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G |
Rpgr |
retinitis pigmentosa GTPase regulator |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness |
ClinVar |
PMID:28041643 |
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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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G |
Sag |
S-antigen visual arrestin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7670478 |
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NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
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G |
Slc24a1 |
solute carrier family 24 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive |
CTD ClinVar |
PMID:28492532 |
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NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
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G |
Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
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ISO |
DNA:mutations:exon, intron:multiple (human) ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:deletion, missense mutations:cds:multiple (human) |
ClinVar CTD RGD |
PMID:9536098 PMID:17576681 PMID:19878917 PMID:19896113 PMID:19966281 PMID:20300565 PMID:25741868 PMID:27803854 PMID:28041643 PMID:28492532 PMID:29074561 PMID:19878917 PMID:19896113 PMID:19896109 More...
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RGD:7175555, RGD:7183085, RGD:7183084 |
NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
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G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
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ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:19878917 |
RGD:7175555 |
NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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G |
Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness |
ClinVar |
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22581970 PMID:23924366 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 PMID:31836858 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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G |
Znf454 |
zinc finger protein 454 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness |
ClinVar |
PMID:22008250 PMID:24715752 PMID:26628857 PMID:28492532 PMID:30718709 |
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NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505
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G |
Nyx |
nyctalopin |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1A |
OMIM ClinVar |
PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 PMID:23406521 PMID:25741868 PMID:28492532 More...
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NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
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G |
Grm6 |
glutamate metabotropic receptor 6 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1B |
OMIM ClinVar |
PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19666700 PMID:19862333 PMID:22008250 PMID:22735794 PMID:25307992 PMID:25741868 PMID:26628857 PMID:26667666 PMID:28041643 PMID:28492532 PMID:30718709 More...
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NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
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G |
Znf454 |
zinc finger protein 454 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1B |
ClinVar |
PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19666700 PMID:19862333 PMID:22008250 PMID:22735794 PMID:25307992 PMID:25741868 PMID:26628857 PMID:26667666 PMID:28492532 PMID:30718709 More...
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NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505
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G |
Mir211 |
microRNA 211 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1C |
ClinVar |
PMID:25741868 |
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NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644
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G |
Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1C |
OMIM ClinVar |
PMID:16199547 PMID:19436059 PMID:19878917 PMID:19896109 PMID:19896113 PMID:19966281 PMID:20300565 PMID:22277662 PMID:25307992 PMID:25741868 PMID:25999674 PMID:26493165 PMID:26872967 PMID:27803854 PMID:28492532 PMID:28559085 PMID:29522070 PMID:30718709 More...
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NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
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G |
Slc24a1 |
solute carrier family 24 member 1 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1D |
OMIM ClinVar |
PMID:9536098 PMID:12037007 PMID:16199547 PMID:17576681 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 More...
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NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
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G |
Gpr179 |
G protein-coupled receptor 179 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1E |
OMIM ClinVar |
PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30718709 More...
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NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
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G |
Lrit3 |
leucine-rich repeat, Ig-like and transmembrane domains 3 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1F |
OMIM ClinVar |
PMID:22673519 PMID:23246293 PMID:25741868 PMID:28492532 |
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NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307
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G |
Gnat1 |
G protein subunit alpha transducin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1G |
OMIM ClinVar |
PMID:22190596 PMID:25741868 PMID:26472407 PMID:28492532 |
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NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
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G |
Cdca3 |
cell division cycle associated 3 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1H |
ClinVar |
PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 PMID:10770310 PMID:11322952 PMID:12668921 PMID:25741868 PMID:27063057 PMID:28492532 More...
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NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
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G |
Gnb3 |
G protein subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1H |
OMIM ClinVar |
PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 PMID:10770310 PMID:11322952 PMID:12668921 PMID:25741868 PMID:27063057 PMID:28492532 More...
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NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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G |
Gucy2d |
guanylate cyclase 2D, retinal |
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ISO |
ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I |
OMIM ClinVar |
PMID:10766140 PMID:16505055 PMID:17724218 PMID:20050595 PMID:23035049 PMID:25477517 PMID:25741868 PMID:26253563 PMID:26626312 PMID:28492532 PMID:29061346 PMID:29559409 PMID:30718709 PMID:34008892 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 |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe |
OMIM ClinVar |
PMID:9529339 PMID:9662399 PMID:9662400 PMID:10900517 PMID:11281458 PMID:12111638 PMID:12187427 PMID:12719097 PMID:15897456 PMID:17525176 PMID:22194652 PMID:23714322 PMID:24033266 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28041643 PMID:28492532 PMID:30576320 PMID:30718709 PMID:30825406 More...
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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 |
Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive |
OMIM ClinVar |
PMID:16960802 PMID:19074807 PMID:20157620 PMID:23099293 PMID:23714322 PMID:25258313 PMID:25307992 PMID:25741868 PMID:26234941 PMID:28041643 PMID:28341476 PMID:28492532 PMID:29525873 PMID:30718709 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 |
Gpr152 |
G protein-coupled receptor 152 |
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ISO |
ClinVar Annotator: match by term: Cone-rod synaptic d | |