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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Abat |
4-aminobutyrate aminotransferase |
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ISO |
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RGD |
PMID:18412635 |
RGD:9588533 |
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Apoe |
apolipoprotein E |
susceptibility |
ISO |
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RGD |
PMID:17562993 |
RGD:7495760 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Aqp4 |
aquaporin 4 |
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IEP |
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RGD |
PMID:18836575 |
RGD:5490154 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Atxn1 |
ataxin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28182653 |
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NCBI chr17:18,737,491...19,142,360
Ensembl chr17:18,737,533...19,142,360
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Casp3 |
caspase 3 |
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IEP |
protein:increased expression:retina |
RGD |
PMID:18836575 |
RGD:5490154 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Cat |
catalase |
treatment |
IEP |
associated with radiation injuries;protein:decreased activity:retina: |
RGD |
PMID:17514533 |
RGD:9107626 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cdh23 |
cadherin-related 23 |
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ISO |
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RGD |
PMID:14609561 |
RGD:8662280 |
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Retinal Diseases |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19959640 PMID:21153841 PMID:25741868 PMID:26529047 PMID:28492532 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Chat |
choline O-acetyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23075401 |
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NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
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Col9a1 |
collagen type IX alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16909383 |
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NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
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Epas1 |
endothelial PAS domain protein 1 |
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ISO |
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RGD |
PMID:14608355 |
RGD:734934 |
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Ercc8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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ISO |
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RGD |
PMID:17145777 |
RGD:10401109 |
NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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Fzd4 |
frizzled class receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
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NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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Gfap |
glial fibrillary acidic protein |
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IEP |
protein:increased expression:retina |
RGD |
PMID:18836575 |
RGD:5490154 |
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Grk1 |
G protein-coupled receptor kinase 1 |
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IEP |
mRNA, protein:decreased expression:retina |
RGD |
PMID:10549637 |
RGD:1600004 |
NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792
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Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23075401 |
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NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Icam1 |
intercellular adhesion molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19324842 |
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NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il10 |
interleukin 10 |
treatment |
ISO |
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RGD |
PMID:23720065 PMID:21273540 |
RGD:7364808, RGD:7364850 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Inpp1 |
inositol polyphosphate-1-phosphatase |
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ISO |
ClinVar Annotator: match by term: Retinal Diseases |
ClinVar |
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NCBI chr 9:48,688,037...48,717,793
Ensembl chr 9:48,669,901...48,717,793
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Map2k3 |
mitogen activated protein kinase kinase 3 |
treatment |
IDA |
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RGD |
PMID:16805832 |
RGD:7495810 |
NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
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Mdm1 |
Mdm1 nuclear protein |
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ISO |
ClinVar Annotator: match by term: Retinal Diseases |
ClinVar |
PMID:25741868 |
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NCBI chr 7:53,729,603...53,766,034
Ensembl chr 7:53,729,610...53,766,034
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Mir183 |
microRNA 183 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27208084 |
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NCBI chr 4:58,788,614...58,788,723
Ensembl chr 4:58,788,614...58,788,723
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Mir96 |
microRNA 96 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27208084 |
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NCBI chr 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23075401 |
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NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
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RGD |
PMID:20532821 |
RGD:7387239 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtnr1a |
melatonin receptor 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21915336 |
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NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
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Nek9 |
NIMA-related kinase 9 |
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ISO |
ClinVar Annotator: match by term: Retinal Diseases |
ClinVar |
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NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
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Nos2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23075401 |
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NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Ocln |
occludin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19324842 |
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NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11840346 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25013951 |
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NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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Prph2 |
peripherin 2 |
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IEP |
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RGD |
PMID:8320859 |
RGD:8553226 |
NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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Ptprc |
protein tyrosine phosphatase, receptor type, C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19324842 |
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NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20835237 |
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NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Sirt1 |
sirtuin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23217256 |
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NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Tenm4 |
teneurin transmembrane protein 4 |
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ISO |
ClinVar Annotator: match by term: Retinal Diseases |
ClinVar |
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NCBI chr 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144
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Thy1 |
Thy-1 cell surface antigen |
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IEP ISO |
protein:decreased expression:retina CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23075401 PMID:18836575 |
RGD:5490154 |
NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19324842 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ttpa |
alpha tocopherol transfer protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11752462 |
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NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
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Uchl1 |
ubiquitin C-terminal hydrolase L1 |
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IEP |
mRNA:decreased expression:retina |
RGD |
PMID:18836575 |
RGD:5490154 |
NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590
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Vegfa |
vascular endothelial growth factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19324842 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vim |
vimentin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23075401 |
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NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Vsx1 |
visual system homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15051220 |
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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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Ifng |
interferon gamma |
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ISO |
associated with Herpes Zoster;protein:increased expression:vitreous humor: |
RGD |
PMID:12928903 |
RGD:8142380 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Itga2 |
integrin subunit alpha 2 |
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ISO |
protein:increased expression:eye anterior segment, natural killer cell (mouse) |
RGD |
PMID:19387084 |
RGD:8693207 |
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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RT1-CE13 |
RT1 class I, locus CE13 |
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ISO |
DNA:polymorphisms:cds:HLA-Bw62 (human) |
RGD |
PMID:2801857 |
RGD:7365119 |
NCBI chr20:3,314,830...3,318,106
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Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Age-related macular degeneration | ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED |
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:10634626 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11379881 PMID:11385708 PMID:11444963 PMID:11527935 PMID:11687513 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:14517951 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16199547 PMID:16303926 PMID:16400609 PMID:16533065 PMID:16546111 PMID:16682602 PMID:16703556 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17562343 PMID:17576681 PMID:17724221 PMID:18024811 PMID:18285826 PMID:18334942 PMID:18414213 PMID:18652558 PMID:18854780 PMID:18977788 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19265867 PMID:19365591 PMID:20029649 PMID:20128570 PMID:20404325 PMID:20696155 PMID:21293320 PMID:21330655 PMID:21786275 PMID:21873672 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22427542 PMID:22449572 PMID:22589445 PMID:22661472 PMID:22661473 PMID:22968130 PMID:23096905 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23499370 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23918662 PMID:23953153 PMID:23982839 PMID:24033266 PMID:24154662 PMID:24265693 PMID:24273789 PMID:24342785 PMID:24409374 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24713488 PMID:24938718 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25301883 PMID:25312043 PMID:25346251 PMID:25412400 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:25922843 PMID:25999674 PMID:26092729 PMID:26103963 PMID:26161775 PMID:26229699 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26743751 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27014590 PMID:27032803 PMID:27367509 PMID:27535533 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28355279 PMID:28365912 PMID:28446513 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29099798 PMID:29114839 PMID:29162642 PMID:29186038 PMID:29310964 PMID:29422768 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29847651 PMID:29848554 PMID:29854428 PMID:29925512 PMID:29971439 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30337596 PMID:30480703 PMID:30563929 PMID:30576320 PMID:30643219 PMID:30670881 PMID:30718709 PMID:30798147 PMID:30834176 PMID:30945053 PMID:31212395 PMID:31456290 PMID:31522899 PMID:31576780 PMID:31614660 PMID:31618761 PMID:31766579 PMID:31964843 PMID:32036094 PMID:32235935 PMID:32278709 PMID:32307445 PMID:32531858 PMID:32619608 PMID:32821503 PMID:33223529 PMID:33261146 PMID:33375396 PMID:33546218 PMID:33724725 PMID:33732702 PMID:33841504 PMID:34008892 PMID:34214897 PMID:34321860 PMID:34906470 PMID:35194496 PMID:35413457 PMID:35886001 PMID:35903041 PMID:36471740 PMID:36909829 PMID:36910710 PMID:38054408 PMID:92952680 More...
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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Ccl2 |
C-C motif chemokine ligand 2 |
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ISS |
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MouseDO |
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NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2 |
C-C motif chemokine receptor 2 |
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ISS |
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MouseDO |
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NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cd46 |
CD46 molecule |
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ISS |
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MouseDO |
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NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cfhr1 |
complement factor H-related 1 |
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ISO |
ClinVar Annotator: match by term: Age-related macular degeneration |
ClinVar |
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 |
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NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Fbln5 |
fibulin 5 |
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ISO |
ClinVar Annotator: match by term: Age-related macular degeneration |
ClinVar |
PMID:15269314 PMID:16652333 PMID:20007835 PMID:20599547 PMID:21576112 PMID:25741868 PMID:28492532 PMID:37761846 More...
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NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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Htra1 |
HtrA serine peptidase 1 |
susceptibility |
ISO |
DNA:snp:promoter:g.-1894G>A (rs3793917) (human) |
RGD |
PMID:22618592 |
RGD:7394695 |
NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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Ppargc1a |
PPARG coactivator 1 alpha |
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ISS |
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MouseDO |
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NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 |
CTD OMIM ClinVar |
PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 PMID:25741868 PMID:28492532 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Cfhr1 |
complement factor H-related 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Cryba1 |
crystallin, beta A1 |
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ISS |
OMIM:603075 |
MouseDO |
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NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
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Hmcn1 |
hemicentin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 |
OMIM CTD ClinVar |
PMID:9536098 PMID:9715689 PMID:14570714 PMID:17216616 PMID:17576681 PMID:25133751 PMID:25338956 PMID:25741868 PMID:25986072 PMID:27007659 PMID:28492532 More...
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NCBI chr13:62,615,461...63,084,524
Ensembl chr13:62,615,461...63,084,524
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Vldlr |
very low density lipoprotein receptor |
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ISS |
OMIM:603075 |
MouseDO |
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NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Cst3 |
cystatin C |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Age related macular degeneration 11 |
OMIM CTD ClinVar |
PMID:11815350 PMID:25741868 PMID:25893795 PMID:28492532 PMID:33116287 |
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NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
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ISO ISS |
ClinVar Annotator: match by term: Age related macular degeneration 12 OMIM:613784 |
OMIM ClinVar MouseDO |
PMID:25741868 |
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NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Cfi |
complement factor I |
susceptibility |
ISO |
ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to |
ClinVar OMIM |
PMID:849647 PMID:8613545 PMID:9536098 PMID:15917334 PMID:16199547 PMID:16621965 PMID:17084897 PMID:17576681 PMID:17597211 PMID:18374984 PMID:19065647 PMID:19861685 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20301541 PMID:20513133 PMID:22710145 PMID:23421077 PMID:23431077 PMID:23685748 PMID:24033266 PMID:24036952 PMID:25352734 PMID:25741868 PMID:25788521 PMID:25899302 PMID:25986072 PMID:26691988 PMID:26767664 PMID:26826462 PMID:27268256 PMID:27939104 PMID:28282489 PMID:28455885 PMID:28492532 PMID:28750931 PMID:29392637 PMID:29410599 PMID:29500241 PMID:29566171 PMID:29888403 PMID:29940891 PMID:30890598 PMID:31049720 PMID:31231365 PMID:31440263 PMID:32510551 PMID:32853637 PMID:32908800 PMID:33712733 PMID:33841858 PMID:34153144 PMID:34169201 PMID:34272986 PMID:35069568 PMID:35531992 PMID:35619721 More...
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NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF |
ClinVar |
PMID:9054934 PMID:9973280 PMID:10090887 PMID:10612508 PMID:10634594 PMID:10880298 PMID:11017087 PMID:11444963 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:15516930 PMID:16400609 PMID:18285826 PMID:18977788 PMID:19217903 PMID:22264887 PMID:22589445 PMID:23144455 PMID:23695285 PMID:24033266 PMID:24154662 PMID:24409374 PMID:24713488 PMID:25082885 PMID:25097241 PMID:25741868 PMID:26247787 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28446513 PMID:28492532 PMID:29925512 PMID:30718709 PMID:31522899 PMID:32278709 PMID:32531858 PMID:34906470 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 |
C2 |
complement C2 |
|
ISO |
ClinVar Annotator: match by term: Age related macular degeneration 14 |
OMIM ClinVar |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:9536098 PMID:9670930 PMID:16518403 PMID:16936732 PMID:17576681 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 PMID:32113979 PMID:34899688 More...
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NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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G |
Cfb |
complement factor B |
|
ISO |
ClinVar Annotator: match by term: Age related macular degeneration 14 |
ClinVar OMIM |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:24799305 PMID:24906628 PMID:25741868 PMID:28492532 PMID:35267578 PMID:36591303 More...
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NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
C9 |
complement C9 |
|
ISO |
ClinVar Annotator: match by term: Age related macular degeneration 15 |
ClinVar OMIM |
PMID:24036952 PMID:25741868 PMID:28492532 |
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NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10634626 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11346402 PMID:11379881 PMID:11385708 PMID:11444963 PMID:11527935 PMID:11687513 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:14517951 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16199547 PMID:16303926 PMID:16400609 PMID:16533065 PMID:16546111 PMID:16682602 PMID:16703556 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17562343 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18334942 PMID:18414213 PMID:18652558 PMID:18854780 PMID:18977788 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19265867 PMID:19365591 PMID:20029649 PMID:20128570 PMID:20404325 PMID:20554613 PMID:20647261 PMID:20696155 PMID:21293320 PMID:21330655 PMID:21786275 PMID:21873672 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22427542 PMID:22449572 PMID:22661472 PMID:22661473 PMID:22968130 PMID:23096905 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23499370 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23918662 PMID:23953153 PMID:23982839 PMID:24033266 PMID:24154662 PMID:24265693 PMID:24273789 PMID:24342785 PMID:24409374 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24550365 PMID:24713488 PMID:24938718 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25301883 PMID:25312043 PMID:25346251 PMID:25412400 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:25922843 PMID:25999674 PMID:26092729 PMID:26103963 PMID:26161775 PMID:26229699 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26743751 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27014590 PMID:27032803 PMID:27367509 PMID:27535533 PMID:27583828 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28355279 PMID:28365912 PMID:28446513 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29099798 PMID:29114839 PMID:29162642 PMID:29178665 PMID:29186038 PMID:29310964 PMID:29422768 PMID:29461686 PMID:29555955 PMID:29706639 PMID:29847635 PMID:29847651 PMID:29848554 PMID:29854428 PMID:29925512 PMID:29971439 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30337596 PMID:30480703 PMID:30563929 PMID:30576320 PMID:30643219 PMID:30670881 PMID:30718709 PMID:30798147 PMID:30834176 PMID:30945053 PMID:31212395 PMID:31456290 PMID:31522899 PMID:31576780 PMID:31614660 PMID:31618761 PMID:31766579 PMID:31964843 PMID:32036094 PMID:32235935 PMID:32278709 PMID:32307445 PMID:32531858 PMID:32619608 PMID:32821503 PMID:33223529 PMID:33261146 PMID:33369172 PMID:33375396 PMID:33546218 PMID:33724725 PMID:33732702 PMID:33841504 PMID:34008892 PMID:34214897 PMID:34321860 PMID:34906470 PMID:35119454 PMID:35194496 PMID:35413457 PMID:35886001 PMID:35903041 PMID:36471740 PMID:36909829 PMID:36910710 PMID:38054408 PMID:92952680 More...
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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G |
Fbln5 |
fibulin 5 |
|
ISO |
ClinVar Annotator: match by term: Macular degeneration, age-related, 3 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 PMID:19194475 PMID:20007835 PMID:20599547 PMID:21576112 PMID:23328402 PMID:24033266 PMID:25741868 PMID:28332470 PMID:28492532 PMID:28765615 PMID:29653220 PMID:30544257 PMID:31945625 PMID:32757322 PMID:32802946 PMID:37761846 More...
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NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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G |
Cfh |
complement factor H |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Age related macular degeneration 4 OMIM:610698 |
CTD OMIM ClinVar MouseDO |
PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 PMID:11158219 PMID:11170896 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14978182 PMID:15761120 PMID:15761121 PMID:15761122 PMID:15870199 PMID:15895326 PMID:16229850 PMID:16299065 PMID:16338962 PMID:16470555 PMID:16601698 PMID:16619239 PMID:16621965 PMID:16630992 PMID:16710702 PMID:16787919 PMID:16816528 PMID:16936732 PMID:16936733 PMID:17018561 PMID:17076561 PMID:17079491 PMID:17089378 PMID:17198853 PMID:17210858 PMID:17241667 PMID:17293598 PMID:17360715 PMID:17396242 PMID:17398321 PMID:17472578 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252232 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:20301541 PMID:20513133 PMID:20660596 PMID:21317894 PMID:21415311 PMID:21670343 PMID:21909106 PMID:21930971 PMID:21979047 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:22594991 PMID:22669321 PMID:23307876 PMID:23431077 PMID:23852337 PMID:23870792 PMID:24036949 PMID:24036952 PMID:24333077 PMID:24498017 PMID:24906858 PMID:25037630 PMID:25188723 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26215151 PMID:26283675 PMID:26501415 PMID:26559391 PMID:26691988 PMID:26826462 PMID:27572114 PMID:27718086 PMID:28011711 PMID:28492532 PMID:28859202 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29511899 PMID:29686068 PMID:29888403 PMID:30046676 PMID:30295827 PMID:30560448 PMID:30674459 PMID:31447099 PMID:31575699 PMID:32185379 PMID:33369641 PMID:33519811 PMID:34169201 PMID:34189567 PMID:34508573 PMID:34912830 PMID:35925583 PMID:35930268 PMID:36246952 PMID:36445700 More...
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NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
ClinVar Annotator: match by term: Age related macular degeneration 5 |
ClinVar OMIM |
PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:16754848 PMID:17576681 PMID:17854076 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:24154677 PMID:25026993 PMID:25136123 PMID:25326635 PMID:25741868 PMID:25820262 PMID:27004399 PMID:27356891 PMID:28492532 PMID:29572252 PMID:30111349 PMID:35135151 PMID:36099812 PMID:38177409 More...
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NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
C3 |
complement C3 |
|
ISO |
DNA:SNPs, haplotype: :multiple |
RGD |
PMID:19899988 |
RGD:7401252 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Cfb |
complement factor B |
no_association |
ISO |
DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) |
RGD |
PMID:19899988 |
RGD:7401252 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Dct |
dopachrome tautomerase |
|
ISO |
ClinVar Annotator: match by term: Age related macular degeneration 7 |
ClinVar |
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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 |
Htra1 |
HtrA serine peptidase 1 |
susceptibility severity |
ISO |
ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration CTD Direct Evidence: marker/mechanism DNA:polymorphisms:multiple (human) DNA:snp:promoter:g.-497C>T (rs2672598) (human) DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human) DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human) |
OMIM ClinVar CTD RGD |
PMID:16199547 PMID:17053108 PMID:17053109 PMID:17568988 PMID:18511946 PMID:19259132 PMID:19387015 PMID:25741868 PMID:28492532 PMID:29895533 PMID:30068478 PMID:31719132 PMID:34510819 PMID:34626176 PMID:18207215 PMID:18436811 PMID:19796758 PMID:19933195 PMID:20157352 More...
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RGD:7394722, RGD:7394721, RGD:7394719, RGD:7394713, RGD:7387295 |
NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type |
ClinVar |
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NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
C3 |
complement C3 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO |
CTD OMIM ClinVar |
PMID:1976733 PMID:7870343 PMID:9536098 PMID:12462331 PMID:14639503 PMID:16687714 PMID:17576681 PMID:17634448 PMID:17767156 PMID:18325906 PMID:18796626 PMID:19168221 PMID:19259132 PMID:19590060 PMID:20595690 PMID:20664795 PMID:21501302 PMID:21576320 PMID:21810760 PMID:22669319 PMID:22718507 PMID:23112567 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23455636 PMID:23847193 PMID:24029428 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25431709 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26283675 PMID:26613027 PMID:27722136 PMID:28492532 PMID:28596415 PMID:28752844 PMID:28939980 PMID:29500241 PMID:29566171 PMID:29670616 PMID:29888403 PMID:30046676 PMID:30131807 PMID:30377230 PMID:30890598 PMID:31042289 PMID:32424742 PMID:32950058 PMID:33213850 PMID:33609329 PMID:34169201 PMID:34631043 PMID:34714369 PMID:34973142 PMID:35295324 PMID:35685318 More...
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NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:30718709 |
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NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Ocular albinism, type II CTD Direct Evidence: marker/mechanism DNA:deletion:exon: |
OMIM ClinVar CTD RGD |
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22183355 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:28838317 PMID:30718709 PMID:30825406 PMID:17525176 More...
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RGD:13782379 |
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Whrn |
whirlin |
|
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 |
Alms1 |
ALMS1, centrosome and basal body associated protein |
susceptibility |
ISO ISS |
DNA:frameshift mutations, nonsense mutations ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome OMIM:203800 CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutations, missense mutations:multiple DNA:nonsense mutations, frameshift mutation, missense mutation:multiple |
ClinVar MouseDO CTD OMIM RGD |
PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 PMID:15689433 PMID:16199547 PMID:16720663 PMID:17576681 PMID:17594715 PMID:17850632 PMID:18038714 PMID:18154657 PMID:18195218 PMID:18414213 PMID:18654604 PMID:19283855 PMID:19763152 PMID:20307669 PMID:21128906 PMID:21157496 PMID:21158358 PMID:21541333 PMID:21877133 PMID:21897446 PMID:21901789 PMID:21943378 PMID:22406018 PMID:22447358 PMID:22498418 PMID:22533542 PMID:22555271 PMID:22773737 PMID:22876109 PMID:23033341 PMID:23188138 PMID:23661369 PMID:23847139 PMID:24033266 PMID:24049434 PMID:24257694 PMID:24400638 PMID:24462884 PMID:24503146 PMID:24534407 PMID:24595103 PMID:24690487 PMID:24830966 PMID:25268133 PMID:25296579 PMID:25468891 PMID:25469153 PMID:25533962 PMID:25640679 PMID:25706677 PMID:25741868 PMID:25846608 PMID:25864795 PMID:25999675 PMID:26010121 PMID:26047050 PMID:26066530 PMID:26077327 PMID:26082521 PMID:26104972 PMID:26111748 PMID:26239645 PMID:26283575 PMID:26285675 PMID:26467025 PMID:26496393 PMID:26566502 PMID:26633542 PMID:26636822 PMID:26704672 PMID:26992781 PMID:27178444 PMID:27375279 PMID:27486776 PMID:27523285 PMID:27665122 PMID:28112973 PMID:28145517 PMID:28402684 PMID:28432734 PMID:28456785 PMID:28492532 PMID:28502102 PMID:28518168 PMID:28573831 PMID:28717663 PMID:28724398 PMID:28912962 PMID:29079548 PMID:29193673 PMID:29302074 PMID:29345162 PMID:29588463 PMID:29590070 PMID:29610177 PMID:29681726 PMID:29715191 PMID:29718281 PMID:29961767 PMID:29970176 PMID:29976977 PMID:30029497 PMID:30054919 PMID:30064963 PMID:30311386 PMID:30421101 PMID:30488743 PMID:30513137 PMID:30532227 PMID:30600744 PMID:31106028 PMID:31308072 PMID:31456290 PMID:31607746 PMID:31624253 PMID:31630094 PMID:31638414 PMID:31755649 PMID:31810438 PMID:31898538 PMID:32037395 PMID:32349990 PMID:32396277 PMID:32451492 PMID:32461654 PMID:32483926 PMID:32503575 PMID:32531858 PMID:32531870 PMID:32581362 PMID:32682410 PMID:32746448 PMID:32856788 PMID:32867697 PMID:32944671 PMID:32945434 PMID:32973878 PMID:33179747 PMID:33502066 PMID:33669459 PMID:33782391 PMID:33924909 PMID:33981653 PMID:34147365 PMID:34148116 PMID:34148947 PMID:34547244 PMID:34716235 PMID:34906470 PMID:34935411 PMID:35211159 PMID:35786123 PMID:36109815 PMID:36162988 PMID:36178741 PMID:36252119 PMID:36413997 PMID:36460718 PMID:36685911 PMID:37321834 PMID:11941369 PMID:16720663 PMID:22876109 PMID:16000322 PMID:16513793 More...
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RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 |
NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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G |
Cct7 |
chaperonin containing TCP1 subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:30250467 More...
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NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Egr4 |
early growth response 4 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
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G |
Emx1 |
empty spiracles homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613
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G |
Fbxo41 |
F-box protein 41 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406
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G |
Noto |
notochord homeobox |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402
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G |
Pradc1 |
protease-associated domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886
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G |
Rab11fip5 |
RAB11 family interacting protein 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741
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G |
Sfxn5 |
sideroflexin 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794
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G |
Smyd5 |
SMYD family member 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347
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G |
Spr |
sepiapterin reductase |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
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G |
Tango2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Alstrom's syndrome |
ClinVar |
PMID:23975875 PMID:25589632 PMID:28492532 |
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
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G |
Best1 |
bestrophin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VRCP autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10798642 PMID:10854112 PMID:11585313 PMID:12543751 PMID:13534955 PMID:14615048 PMID:15452077 PMID:17065513 PMID:17576681 PMID:18289629 PMID:18611979 PMID:19853238 PMID:21072067 PMID:21436265 PMID:21825197 PMID:23213274 PMID:24560797 PMID:25741868 PMID:25999674 PMID:26771239 PMID:28225368 PMID:28492532 PMID:28559085 PMID:28687848 PMID:29215532 PMID:29555955 PMID:29844330 PMID:30718709 PMID:31263784 PMID:33546218 PMID:34061021 More...
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NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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G |
Fth1 |
ferritin heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VRCP autosomal dominant |
ClinVar |
PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 |
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NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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G |
A2m |
alpha-2-macroglobulin |
treatment |
ISO |
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RGD |
PMID:10848441 |
RGD:10046010 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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G |
Cat |
catalase |
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ISO |
associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: |
RGD |
PMID:24092995 |
RGD:9068931 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
protein:decreased expression:aqueous humor: |
RGD |
PMID:23853629 |
RGD:10402120 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Map3k8 |
mitogen-activated protein kinase kinase kinase 8 |
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ISO |
protein:increased activity:serum: |
RGD |
PMID:28724746 |
RGD:151356966 |
NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
protein:decreased expression:vitreous: |
RGD |
PMID:19799585 |
RGD:10449447 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Cfh |
complement factor H |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED |
CTD OMIM ClinVar |
PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 PMID:10762557 PMID:11158219 PMID:11170896 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14978182 PMID:15761120 PMID:15761121 PMID:15761122 PMID:15870199 PMID:15895326 PMID:16229850 PMID:16299065 PMID:16338962 PMID:16470555 PMID:16601698 PMID:16619239 PMID:16621965 PMID:16630992 PMID:16710702 PMID:16787919 PMID:16816528 PMID:16936733 PMID:17018561 PMID:17076561 PMID:17079491 PMID:17089378 PMID:17198853 PMID:17210858 PMID:17241667 PMID:17293598 PMID:17360715 PMID:17396242 PMID:17398321 PMID:17472578 PMID:17576681 PMID:17599974 PMID:17947292 PMID:18235085 PMID:18252232 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20203157 PMID:20301541 PMID:20513133 PMID:20660596 PMID:21317894 PMID:21415311 PMID:21670343 PMID:21909106 PMID:21930971 PMID:21979047 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:22594991 PMID:22669321 PMID:23235567 PMID:23307876 PMID:23431077 PMID:23847193 PMID:23852337 PMID:23870792 PMID:24029428 PMID:24036949 PMID:24036952 PMID:24333077 PMID:24498017 PMID:24847005 PMID:24906858 PMID:25037630 PMID:25188723 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26215151 PMID:26283675 PMID:26501415 PMID:26559391 PMID:26691988 PMID:26826462 PMID:27572114 PMID:27718086 PMID:28011711 PMID:28492532 PMID:28859202 PMID:28941939 PMID:29410599 PMID:29500241 PMID:29511899 PMID:29686068 PMID:29888403 PMID:30046676 PMID:30295827 PMID:30560448 PMID:30674459 PMID:31447099 PMID:31575699 PMID:32185379 PMID:33024316 PMID:33369641 PMID:33519811 PMID:34169201 PMID:34189567 PMID:34508573 PMID:34912830 PMID:35925583 PMID:35930268 PMID:36246952 PMID:36445700 More...
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NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Best1 |
bestrophin 1 |
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ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy OMIM:611809 |
OMIM ClinVar MouseDO |
PMID:2133066 PMID:2162627 PMID:9700209 PMID:10788642 PMID:10798642 PMID:10854112 PMID:16754206 PMID:17110374 PMID:17287362 PMID:18179881 PMID:18985398 PMID:19372599 PMID:19853238 PMID:20057343 PMID:20927214 PMID:21077756 PMID:21109774 PMID:21192766 PMID:21269699 PMID:21273940 PMID:21330666 PMID:21412020 PMID:21738390 PMID:21809908 PMID:21825197 PMID:21878505 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23213274 PMID:23290749 PMID:23825107 PMID:24033266 PMID:24560797 PMID:25082885 PMID:25324289 PMID:25489231 PMID:25741868 PMID:26200502 PMID:26201355 PMID:26310487 PMID:26333019 PMID:26720466 PMID:27071392 PMID:27519691 PMID:27764019 PMID:27775230 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28687848 PMID:29063836 PMID:29215532 PMID:29507198 PMID:29555955 PMID:29668979 PMID:29781975 PMID:29847639 PMID:30498755 PMID:30578502 PMID:30593719 PMID:30718709 PMID:31570112 PMID:31766397 PMID:31814694 PMID:32141364 PMID:32239196 PMID:33302512 PMID:33546218 PMID:34015078 PMID:34327816 PMID:36527004 More...
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NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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G |
Crb1 |
crumbs cell polarity complex component 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy |
ClinVar |
PMID:17128490 PMID:17297678 PMID:23379534 PMID:24033266 PMID:25474345 PMID:25741868 PMID:27096895 PMID:27258436 PMID:27628848 PMID:28041643 PMID:28181551 PMID:28492532 PMID:28819299 PMID:29391521 PMID:33546218 PMID:36909829 More...
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NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
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G |
Fth1 |
ferritin heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy |
ClinVar |
PMID:2133066 PMID:10788642 PMID:18985398 PMID:20927214 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:24560797 PMID:25489231 PMID:25741868 PMID:26201355 PMID:26720466 PMID:28492532 PMID:28687848 PMID:29555955 PMID:29668979 PMID:30498755 PMID:30593719 PMID:33546218 More...
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NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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G |
Prph2 |
peripherin 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy |
ClinVar |
PMID:11139241 PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25741868 PMID:28492532 PMID:28559085 PMID:32531846 PMID:33546218 PMID:34906470 More...
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NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: Bietti tapetoretinal degeneration with marginal corneal dystrophy |
ClinVar |
PMID:9054934 PMID:10958761 PMID:23755871 PMID:24938718 PMID:25312043 PMID:25741868 PMID:26780318 PMID:28041643 PMID:28492532 PMID:29186038 PMID:30718709 PMID:30798147 PMID:33546218 More...
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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G |
Cyp4v3 |
cytochrome P450, family 4, subfamily v, polypeptide 3 |
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ISO ISS |
ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: CYP4V2-related disorder OMIM:210370 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 PMID:16199547 PMID:17962476 PMID:18398705 PMID:21385027 PMID:21565171 PMID:22087103 PMID:22497028 PMID:22693542 PMID:22772592 PMID:23221965 PMID:23538635 PMID:23661369 PMID:24033266 PMID:24480711 PMID:24739949 PMID:25118264 PMID:25356976 PMID:25593508 PMID:25611614 PMID:25741868 PMID:26971461 PMID:27658286 PMID:28051075 PMID:28492532 PMID:28512305 PMID:28698241 PMID:28763560 PMID:28848678 PMID:29691984 PMID:29785639 PMID:30429639 PMID:31512983 PMID:31960602 PMID:33090715 PMID:33546218 More...
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NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
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G |
Klkb1 |
kallikrein B1 |
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ISO |
ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy |
ClinVar |
PMID:17962476 PMID:25741868 |
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NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
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G |
Il2 |
interleukin 2 |
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ISO |
protein:increased expression:aqueous humor |
RGD |
PMID:21570674 |
RGD:5147908 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
RT1-CE13 |
RT1 class I, locus CE13 |
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ISO |
DNA:polymorphisms:cds:HLA-B12 (human) |
RGD |
PMID:3341436 |
RGD:7365121 |
NCBI chr20:3,314,830...3,318,106
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G |
Rlbp1 |
retinaldehyde binding protein 1 |
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ISO ISS |
ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY OMIM:607475 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:10102298 PMID:10102299 PMID:11449319 PMID:12536144 PMID:15234312 PMID:15953459 PMID:18344446 PMID:19846785 PMID:20238024 PMID:22171637 PMID:22183382 PMID:25326637 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28492532 PMID:31456290 PMID:32188692 More...
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NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
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G |
Mcoln1 |
mucolipin TRP cation channel 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25267340 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29248984 PMID:30555943 PMID:31135245 PMID:31780887 PMID:32623594 PMID:33141049 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 PMID:36825042 PMID:38735647 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 |
Rgs9 |
regulator of G-protein signaling 9 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bradyopsia |
CTD ClinVar |
PMID:11262419 PMID:14702087 PMID:17826834 PMID:19818506 PMID:25741868 PMID:28492532 PMID:30718709 More...
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NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
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G |
Rgs9bp |
regulator of G protein signaling 9 binding protein |
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ISO |
ClinVar Annotator: match by term: Bradyopsia |
ClinVar |
PMID:14702087 PMID:25741868 PMID:28492532 |
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NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151
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G |
Rgs9 |
regulator of G-protein signaling 9 |
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ISO |
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OMIM |
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NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892
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G |
Rgs9bp |
regulator of G protein signaling 9 binding protein |
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ISO |
ClinVar Annotator: match by term: Prolonged electroretinal response suppression 2 |
OMIM ClinVar |
PMID:17698770 PMID:19818506 PMID:25741868 PMID:28492532 PMID:31144483 |
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NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151
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G |
Col4a1 |
collagen type IV alpha 1 chain |
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ISO ISS |
ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage OMIM:175780 |
ClinVar OMIM MouseDO |
PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:10713126 PMID:10896941 PMID:12011424 PMID:15023374 PMID:15136694 PMID:15905400 PMID:16107487 PMID:16159887 PMID:16199547 PMID:16598045 PMID:17078022 PMID:17576681 PMID:17696175 PMID:17938367 PMID:18077766 PMID:19194877 PMID:19344236 PMID:19477666 PMID:20301768 PMID:20385946 PMID:20733150 PMID:21527998 PMID:21625620 PMID:22102590 PMID:22522439 PMID:22574627 PMID:22914737 PMID:23065703 PMID:23225343 PMID:23394911 PMID:24088041 PMID:24374867 PMID:24628545 PMID:25326635 PMID:25457163 PMID:25590979 PMID:25706114 PMID:25719457 PMID:25741868 PMID:25741869 PMID:26310487 PMID:26362372 PMID:26467025 PMID:26633545 PMID:28017902 PMID:28369186 PMID:28442301 PMID:28492532 PMID:29137252 PMID:29602769 PMID:29770612 PMID:29927466 PMID:30087447 PMID:30181649 PMID:30315939 PMID:30413629 PMID:30653986 PMID:30837194 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:31857254 PMID:32033901 PMID:32042920 PMID:32488064 PMID:32499604 PMID:32515830 PMID:32732225 PMID:32818659 PMID:33298904 PMID:33353976 PMID:33527515 PMID:34114234 PMID:34906502 PMID:35711275 PMID:36035189 PMID:37673932 PMID:37830085 More...
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NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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G |
Col4a2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
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RGD |
PMID:20688738 |
RGD:11100028 |
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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G |
Serpinf1 |
serpin family F member 1 |
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IEP |
protein:increased expression:neuroretina (rat) |
RGD |
PMID:21487926 |
RGD:5490120 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
protein:increased expression:plasma (human) protein:increased expression:serum (human) |
RGD |
PMID:10218712 PMID:24446892 |
RGD:8547738, RGD:8547804 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome |
CTD ClinVar |
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Stn1 |
STN1 subunit of CST complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:33510405 PMID:34573280 PMID:34706368 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Pfas |
phosphoribosylformylglycinamidine synthase |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29481669 More...
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NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 |
OMIM ClinVar |
PMID:25741868 PMID:27432940 PMID:28492532 |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Pot1 |
protection of telomeres 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 |
ClinVar OMIM |
PMID:27013236 PMID:28492532 |
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NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) |
RGD |
PMID:18523590 |
RGD:8657355 |
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Chm |
CHM Rab escort protein |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:303100 ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type |
OMIM CTD MouseDO ClinVar |
PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 PMID:8832720 PMID:9067750 PMID:9175730 PMID:10447648 PMID:11139690 PMID:12203991 PMID:12827496 PMID:16087855 PMID:16199547 PMID:16936131 PMID:18766988 PMID:19427510 PMID:21905166 PMID:22957832 PMID:23811034 PMID:25741868 PMID:25744334 PMID:25912515 PMID:26133251 PMID:27247961 PMID:28041643 PMID:28098911 PMID:28492532 PMID:28559085 PMID:29045269 PMID:29555028 PMID:30297895 PMID:30541579 PMID:30995293 PMID:31054281 PMID:32097478 PMID:32364220 PMID:32487042 PMID:32531858 PMID:36909829 More...
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NCBI chr X:78,203,200...78,361,996
Ensembl chr X:78,203,204...78,361,943
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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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Acod1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
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Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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Arl11 |
ADP-ribosylation factor like GTPase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
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Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Bora |
bora, aurora kinase A activator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
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C15h13orf42 |
similar to human chromosome 13 open reading frame 42 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
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Cab39l |
calcium binding protein 39-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
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Ccdc70 |
coiled-coil domain containing 70 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
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Ckap2 |
cytoskeleton associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
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Cln5 |
CLN5, intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
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Cnmd |
chondromodulin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
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Commd6 |
COMM domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
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Cysltr2 |
cysteinyl leukotriene receptor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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Dach1 |
dachshund family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
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Diaph3 |
diaphanous-related formin 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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Dleu7 |
deleted in lymphocytic leukemia, 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697
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Ebpl |
EBP like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
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Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Fam124a |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
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Fbxl3 |
F-box and leucine-rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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Fndc3a |
fibronectin type III domain containing 3a |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
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Ints6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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Itm2b |
integral membrane protein 2B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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Kcnrg |
potassium channel regulator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415
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Kctd12 |
potassium channel tetramerization domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282
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Klf12 |
KLF transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
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Klf5 |
KLF transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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Klhl1 |
kelch-like family member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594
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Kpna3 |
karyopherin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
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Lmo7 |
LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783
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Lpar6 |
lysophosphatidic acid receptor 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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Med4 |
mediator complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
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Mycbp2 |
MYC binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
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Mzt1 |
mitotic spindle organizing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589
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Ndfip2 |
Nedd4 family interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
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Nek3 |
NIMA-related kinase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
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Nek5 |
NIMA-related kinase 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
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Nudt15 |
nudix hydrolase 15 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
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Obi1 |
ORC ubiquitin ligase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
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Olfm4 |
olfactomedin 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
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Pcdh17 |
protocadherin 17 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
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Pcdh20 |
protocadherin 20 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
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Pcdh8 |
protocadherin 8 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872
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Pcdh9 |
protocadherin 9 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
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Phf11 |
PHD finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
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Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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Pou4f1 |
POU class 4 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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Prr20e |
proline rich 20E |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
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Rb1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rbm26 |
RNA binding motif protein 26 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
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Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
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Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
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Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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Scel |
sciellin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
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Serpine3 |
serpin family E member 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
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Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
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Slain1 |
SLAIN motif family, member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
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Slitrk1 |
SLIT and NTRK-like family, member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
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Slitrk6 |
SLIT and NTRK-like family, member 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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Spry2 |
sprouty RTK signaling antagonist 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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Spryd7 |
SPRY domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
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G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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G |
Trim13 |
tripartite motif-containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
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G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355 Ensembl chr 3:78,485,315...78,527,355
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G |
Vps36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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G |
Aars1 |
alanyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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G |
Acd |
ACD, shelterin complex subunit and telomerase recruitment factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
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G |
Adcy7 |
adenylate cyclase 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
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G |
Adgrg1 |
adhesion G protein-coupled receptor G1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
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G |
Adgrg3 |
adhesion G protein-coupled receptor G3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,972,425...10,001,118
Ensembl chr19:9,972,430...10,001,123
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G |
Adgrg5 |
adhesion G protein-coupled receptor G5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,074,787...10,098,640
Ensembl chr19:10,079,375...10,097,214
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G |
Agrp |
agouti related neuropeptide |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,447,992...33,481,602
Ensembl chr19:33,447,992...33,449,584
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G |
Aktip |
AKT interacting protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:15,866,811...15,877,123
Ensembl chr19:15,866,928...15,886,663
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G |
Amfr |
autocrine motility factor receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
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|
G |
Arl2bp |
ADP-ribosylation factor like GTPase 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
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|
G |
Atp6v0d1 |
ATPase H+ transporting V0 subunit D1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,403,352...33,447,357
Ensembl chr19:33,403,355...33,447,450
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|
G |
B3gnt9 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344
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|
G |
Bbs2 |
Bardet-Biedl syndrome 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
Bean1 |
brain expressed, associated with NEDD4, 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:739,551...786,395
Ensembl chr19:739,551...787,537
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|
G |
Brd7 |
bromodomain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
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|
G |
C19h16orf78 |
similar to human chromosome 16 open reading frame 78 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:19,484,248...19,509,632
Ensembl chr19:19,483,882...19,509,469
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|
G |
C19h16orf86 |
similar to human chromosome 16 open reading frame 86 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521
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|
G |
Capns2 |
calpain, small subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:14,104,334...14,105,276
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|
G |
Car7 |
carbonic anhydrase 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:429,063...438,478
Ensembl chr19:429,075...438,467
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|
G |
Carmil2 |
capping protein regulator and myosin 1 linker 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
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|
G |
Cbfb |
core-binding factor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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|
G |
Cbln1 |
cerebellin 1 precursor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:19,608,763...19,612,572
Ensembl chr19:19,608,716...19,612,572
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|
G |
Ccdc102a |
coiled-coil domain containing 102A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,102,543...10,118,657
Ensembl chr19:10,103,361...10,118,657
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|
G |
Ccdc113 |
coiled-coil domain containing 113 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,497,000...9,516,917
Ensembl chr19:9,496,886...9,516,923
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|
G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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|
G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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|
G |
Cdh1 |
cadherin 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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|
G |
Cdh11 |
cadherin 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
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|
G |
Cdh16 |
cadherin 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:360,824...371,008
Ensembl chr19:360,824...371,007
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|
G |
Cdh3 |
cadherin 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
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|
G |
Cdh5 |
cadherin 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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|
G |
Cdh8 |
cadherin 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:5,494,038...5,901,810
Ensembl chr19:5,494,174...5,895,669
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|
G |
Cenpt |
centromere protein T |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
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|
G |
Ces1d |
carboxylesterase 1D |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:13,873,490...13,912,035
Ensembl chr19:13,796,623...13,912,035
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G |
Ces2h |
carboxylesterase 2H |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830
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|
G |
Ces3a |
carboxylesterase 3a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:32,992,386...33,000,562
|
|
G |
Ces4a |
carboxylesterase 4A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545
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|
G |
Ces5a |
carboxylesterase 5A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:11,469,431...11,499,007
Ensembl chr19:11,469,469...11,499,006
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|
G |
Cfap20 |
cilia and flagella associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558
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G |
Chd9 |
chromodomain helicase DNA binding protein 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:15,941,535...16,146,220
Ensembl chr19:15,942,687...16,164,556
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G |
Chtf8 |
chromosome transmission fidelity factor 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,782,005...34,792,306
Ensembl chr19:34,781,856...34,792,578
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G |
Ciao2b |
cytosolic iron-sulfur assembly component 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:344,194...346,068
Ensembl chr19:344,203...346,068
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|
G |
Ciapin1 |
cytokine induced apoptosis inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,179,963...10,195,511
Ensembl chr19:10,180,100...10,195,503
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|
G |
Cklf |
chemokine-like factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:698,097...706,570
Ensembl chr19:698,033...706,570
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|
G |
Clec18a |
C-type lectin domain family 18, member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:39,038,498...39,053,425
Ensembl chr19:39,038,273...39,056,017
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|
G |
Cmtm1 |
CKLF-like MARVEL transmembrane domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:651,641...661,184
Ensembl chr19:651,644...661,184
|
|
G |
Cmtm2b |
CKLF-like MARVEL transmembrane domain containing 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:640,838...651,872
Ensembl chr19:640,824...651,939
|
|
G |
Cmtm3 |
CKLF-like MARVEL transmembrane domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:622,563...630,721
Ensembl chr19:604,458...629,790
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|
G |
Cmtm4 |
CKLF-like MARVEL transmembrane domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:576,203...616,109
Ensembl chr19:576,203...616,109
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|
G |
Cnep1r1 |
CTD nuclear envelope phosphatase 1 regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,932,631...18,947,667
Ensembl chr19:18,932,682...18,947,667
|
|
G |
Cngb1 |
cyclic nucleotide gated channel subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
|
|
G |
Cnot1 |
CCR4-NOT transcription complex, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
|
|
G |
Cog4 |
component of oligomeric golgi complex 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
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|
G |
Cog8 |
component of oligomeric golgi complex 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,951,625...34,962,377
Ensembl chr19:34,951,627...34,962,397
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G |
Coq9 |
coenzyme Q9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
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G |
Cpne2 |
copine 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,434,277...10,472,146
Ensembl chr19:10,434,277...10,471,820
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G |
Crnde |
colorectal neoplasia differentially expressed |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:33891002 |
|
NCBI chr19:14,643,887...14,653,880
|
|
G |
Csnk2a2 |
casein kinase 2 alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
|
|
G |
Ctcf |
CCCTC-binding factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
|
|
G |
Ctrl |
chymotrypsin-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626
|
|
G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
|
|
G |
Cyb5b |
cytochrome b5 type B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:35,062,871...35,096,741
Ensembl chr19:35,062,813...35,098,249
|
|
G |
Cyld |
CYLD lysine 63 deubiquitinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
|
|
G |
Ddx19a |
DEAD-box helicase 19A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,942,497...38,962,853
Ensembl chr19:38,942,496...38,962,854
|
|
G |
Ddx19b |
DEAD-box helicase 19B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,968,215...38,998,907
Ensembl chr19:38,968,215...38,997,259
|
|
G |
Ddx28 |
DEAD-box helicase 28 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,909,799...33,911,729
Ensembl chr19:33,909,801...33,911,742
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G |
Dok4 |
docking protein 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,146,520...10,157,187
Ensembl chr19:10,146,474...10,158,203
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|
G |
Dpep2 |
dipeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,883,557...33,896,487
Ensembl chr19:33,885,478...33,891,954
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|
G |
Dpep3 |
dipeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,868,229...33,876,609
Ensembl chr19:33,868,242...33,873,896
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|
G |
Drc7 |
dynein regulatory complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,943,452...9,961,266
Ensembl chr19:9,943,456...9,961,163
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|
G |
Dus2 |
dihydrouridine synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,906,517...33,954,922
Ensembl chr19:33,911,750...33,954,709
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|
G |
Dync1li2 |
dynein, cytoplasmic 1 light intermediate chain 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:531,783...554,670
Ensembl chr19:531,812...554,670
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|
G |
E2f4 |
E2F transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806
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|
G |
Edc4 |
enhancer of mRNA decapping 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,774,062...33,786,054
Ensembl chr19:33,774,055...33,787,758
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|
G |
Elmo3 |
engulfment and cell motility 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,181,952...33,186,399
Ensembl chr19:33,182,036...33,186,410
|
|
G |
Enkd1 |
enkurin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545
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|
G |
Esrp2 |
epithelial splicing regulatory protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726
|
|
G |
Exoc3l1 |
exocyst complex component 3-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,166,836...33,174,371
Ensembl chr19:33,166,837...33,172,486
|
|
G |
Exosc6 |
exosome component 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:39,022,171...39,023,585
Ensembl chr19:39,022,183...39,023,515
|
|
G |
Fbxl8 |
F-box and leucine-rich repeat protein 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,142,705...33,147,266
Ensembl chr19:33,142,715...33,147,262
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|
G |
Fcsk |
fucose kinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418
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|
G |
Fhod1 |
formin homology 2 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,206,492...33,225,448
Ensembl chr19:33,206,492...33,225,356
|
|
G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
|
|
G |
Gfod2 |
Gfo/Idh/MocA-like oxidoreductase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004
|
|
G |
Gins3 |
GINS complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,420,085...9,428,621
Ensembl chr19:9,420,086...9,428,687
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|
G |
Gnao1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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|
G |
Got2 |
glutamic-oxaloacetic transaminase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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|
G |
Has3 |
hyaluronan synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,768,421...34,782,170
Ensembl chr19:34,771,982...34,782,592
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|
G |
Heatr3 |
HEAT repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
|
|
G |
Herpud1 |
homocysteine inducible ER protein with ubiquitin like domain 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,598,411...10,609,002
Ensembl chr19:10,598,417...10,618,424
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|
G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
|
|
G |
Hsf4 |
heat shock transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479
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|
G |
Il34 |
interleukin 34 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,714,990...38,782,749
Ensembl chr19:38,714,991...38,764,000
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|
G |
Irx3 |
iroquois homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:15,211,882...15,215,317
Ensembl chr19:15,211,878...15,215,317
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|
G |
Irx5 |
iroquois homeobox 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 PMID:33891002 |
|
NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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|
G |
Irx6 |
iroquois homeobox 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 PMID:33891002 |
|
NCBI chr19:14,330,440...14,336,403
Ensembl chr19:14,330,440...14,336,403
|
|
G |
Katnb1 |
katanin regulatory subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650
|
|
G |
Kctd19 |
potassium channel tetramerization domain containing 19 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,259,869...33,292,011
Ensembl chr19:33,259,970...33,292,006
|
|
G |
Kifc3 |
kinesin family member C3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,825,114...9,920,371
Ensembl chr19:9,886,693...9,920,451
|
|
G |
Lcat |
lecithin cholesterol acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
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|
G |
Lpcat2 |
lysophosphatidylcholine acyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 PMID:33891002 |
|
NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829
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|
G |
Lrrc29 |
leucine rich repeat containing 29 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,181,713...33,203,583
Ensembl chr19:33,188,352...33,203,545
|
|
G |
Lrrc36 |
leucine rich repeat containing 36 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,292,074...33,342,426
Ensembl chr19:33,292,074...33,360,141
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|
G |
Matcap1 |
microtubule associated tyrosine carboxypeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,158,053...33,166,784
Ensembl chr19:33,158,056...33,166,445
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|
G |
Mir138-2 |
microRNA 138-2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,674,193...10,674,274
Ensembl chr19:10,674,193...10,674,274
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|
G |
Mir140 |
microRNA 140 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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|
G |
Mir328 |
microRNA 328 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,184,766...33,184,849
Ensembl chr19:33,184,766...33,184,849
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|
G |
Mmp15 |
matrix metallopeptidase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,663,449...9,684,943
Ensembl chr19:9,663,449...9,684,943
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|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 PMID:33891002 |
|
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
|
|
G |
Mt1 |
metallothionein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
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|
G |
Mt1-ps3 |
metallothionein 1, pseudogene 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:74,786,652...74,787,040
Ensembl chr17:74,786,654...74,787,135
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G |
Mt2A |
metallothionein 2A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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|
G |
Mt3 |
metallothionein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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|
G |
Mt4 |
metallothionein 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,863,813...10,865,909
Ensembl chr19:10,863,813...10,865,909
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|
G |
Mtss2 |
MTSS I-BAR domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
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G |
Nae1 |
NEDD8 activating enzyme E1 subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:446,015...472,145
Ensembl chr19:446,000...472,371
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|
G |
Ndrg4 |
NDRG family member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
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G |
Nfat5 |
nuclear factor of activated T-cells 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:35,199,737...35,286,675
Ensembl chr19:35,199,016...35,286,675
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G |
Nfatc3 |
nuclear factor of activated T-cells 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,960,643...34,035,150
Ensembl chr19:33,960,852...34,035,150
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|
G |
Nip7 |
nucleolar pre-rRNA processing protein NIP7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,962,557...34,964,700
Ensembl chr19:34,962,557...34,964,711
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G |
Nkd1 |
NKD inhibitor of WNT signaling pathway 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,476,344...18,549,380
Ensembl chr19:18,476,344...18,549,380
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G |
Nlrc5 |
NLR family, CARD domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
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G |
Nob1 |
NIN1 (RPN12) binding protein 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Nol3 |
nucleolar protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nrn1l |
neuritin 1-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,786,419...33,787,879
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|
G |
Nudt21 |
nudix hydrolase 21 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,974,800...10,993,841
Ensembl chr19:10,974,241...10,991,682
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G |
Nup93 |
nucleoporin 93 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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G |
Nutf2 |
nuclear transport factor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,752,319...33,773,595
Ensembl chr19:33,752,291...33,773,591
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|
G |
Ogfod1 |
2-oxoglutarate and iron-dependent oxygenase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,945,031...10,974,602
Ensembl chr19:10,946,018...10,975,119
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|
G |
Pard6a |
par-6 family cell polarity regulator alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,589,531...33,591,900
Ensembl chr19:33,589,542...33,591,900
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|
G |
Pdf |
peptide deformylase (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,949,408...34,951,621
Ensembl chr19:34,948,256...34,951,515
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|
G |
Pdp2 |
pyruvate dehydrogenase phosphatase catalytic subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:386,408...394,068
Ensembl chr19:386,406...394,074
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|
G |
Pdpr |
pyruvate dehydrogenase phosphatase regulatory subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688
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|
G |
Phaf1 |
phagosome assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,101,453...33,138,920
Ensembl chr19:33,101,490...33,138,914
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G |
Pla2g15 |
phospholipase A2, group XV |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,050,685...34,068,070
Ensembl chr19:34,050,694...34,068,063
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|
G |
Plekhg4 |
pleckstrin homology and RhoGEF domain containing G4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,251,788...33,266,490
Ensembl chr19:33,249,706...33,266,357
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|
G |
Pllp |
plasmolipin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892
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|
G |
Polr2c |
RNA polymerase II subunit C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945
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G |
Prmt7 |
protein arginine methyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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G |
Prss54 |
serine protease 54 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,479,995...9,496,838
Ensembl chr19:9,479,995...9,496,835
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G |
Pskh1 |
protein serine kinase H1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,794,919...33,827,040
Ensembl chr19:33,794,935...33,827,032
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G |
Psmb10 |
proteasome 20S subunit beta 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,830,958...33,833,442
Ensembl chr19:33,827,229...33,833,626
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G |
Psme3ip1 |
proteasome activator subunit 3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,401,400...10,430,059
Ensembl chr19:10,401,532...10,429,987
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G |
Ranbp10 |
RAN binding protein 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033
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G |
Rbl2 |
RB transcriptional corepressor like 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
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G |
Ripor1 |
RHO family interacting cell polarization regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,477,750...33,506,424
Ensembl chr19:33,477,793...33,506,420
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G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Rrad |
RRAD, Ras related glycolysis inhibitor and calcium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417
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G |
Rspry1 |
ring finger and SPRY domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102
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G |
Sall1 |
spalt-like transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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G |
Setd6 |
SET domain containing 6, protein lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,343,309...9,350,477
Ensembl chr19:9,347,458...9,350,453
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G |
Sf3b3 |
splicing factor 3b, subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,782,749...38,820,271
Ensembl chr19:38,783,040...38,820,245
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G |
Slc12a3 |
solute carrier family 12 member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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G |
Slc12a4 |
solute carrier family 12 member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331
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G |
Slc38a7 |
solute carrier family 38, member 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,209,203...9,225,472
Ensembl chr19:9,209,257...9,225,454
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G |
Slc6a2 |
solute carrier family 6 member 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:14,010,292...14,055,317
Ensembl chr19:14,010,386...14,050,357
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G |
Slc7a6 |
solute carrier family 7 member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,073,472...34,100,268
Ensembl chr19:34,074,286...34,100,268
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G |
Slc7a6os |
solute carrier family 7, member 6 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651
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G |
Slc9a5 |
solute carrier family 9 member A5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,225,481...33,246,913
Ensembl chr19:33,226,816...33,246,903
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G |
Smpd3 |
sphingomyelin phosphodiesterase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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G |
Sntb2 |
syntrophin, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,831,657...34,922,325
Ensembl chr19:34,831,584...34,914,113
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G |
Snx20 |
sorting nexin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,435,935...18,445,108
Ensembl chr19:18,435,935...18,445,107
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G |
Spmip8 |
sperm microtubule inner protein 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:9,713,281...9,722,257
Ensembl chr19:9,712,641...9,722,257
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G |
St3gal2 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869
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G |
Tango6 |
transport and golgi organization 6 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639
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G |
Tent4b |
terminal nucleotidyltransferase 4B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:18,807,616...18,868,969
Ensembl chr19:18,807,525...18,869,537
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G |
Terb1 |
telomere repeat binding bouquet formation protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:473,720...528,069
Ensembl chr19:473,218...528,084
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G |
Terf2 |
telomeric repeat binding factor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
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G |
Thap11 |
THAP domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540
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G |
Tk2 |
thymidine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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G |
Tmed6 |
transmembrane p24 trafficking protein 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:34,966,813...34,972,900
Ensembl chr19:34,966,813...34,972,900
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G |
Tmem208 |
transmembrane protein 208 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,203,587...33,206,287
Ensembl chr19:33,203,587...33,212,183
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G |
Tox3 |
TOX high mobility group box family member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:16,648,338...16,757,151
Ensembl chr19:16,648,342...16,757,148
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G |
Tppp3 |
tubulin polymerization-promoting protein family member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,345,897...33,349,610
Ensembl chr19:33,345,898...33,349,577
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G |
Tradd |
TNFRSF1A-associated via death domain |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638
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G |
Tsnaxip1 |
translin-associated factor X interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,716,834...33,734,824
Ensembl chr19:33,716,785...33,734,824
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G |
Usb1 |
U6 snRNA biogenesis phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
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G |
Utp4 |
UTP4 small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:34,790,962...34,820,558
Ensembl chr19:34,792,457...34,820,550
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G |
Vac14 |
VAC14 component of PIKFYVE complex |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909
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G |
Vps4a |
vacuolar protein sorting 4 homolog A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:34,934,999...34,948,888
Ensembl chr19:34,934,961...34,948,887
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G |
Wwp2 |
WW domain containing E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699
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G |
Zdhhc1 |
zinc finger, DHHC-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:33,350,533...33,375,717
Ensembl chr19:33,350,533...33,375,616
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G |
Zfp319 |
zinc finger protein 319 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:9,702,827...9,706,806
Ensembl chr19:9,702,144...9,713,198
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G |
Zfp423 |
zinc finger protein 423 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373
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G |
Zfp90 |
zinc finger protein 90 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:34,321,980...34,333,195
Ensembl chr19:34,321,940...34,333,194
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G |
Lrrc32 |
leucine rich repeat containing 32 |
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ISO |
ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:30976112 |
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NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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G |
Fzd4 |
frizzled class receptor 4 |
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ISO |
ClinVar Annotator: match by term: Coats disease |
ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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G |
Ndp |
norrin cystine knot growth factor NDP |
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ISO |
ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:26908610 |
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NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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G |
Pcdh12 |
protocadherin 12 |
|
ISO |
ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:25741868 PMID:30459466 |
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NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307
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G |
Prss23 |
serine protease 23 |
|
ISO |
ClinVar Annotator: match by term: Coats disease |
ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091
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G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Coats disease | ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:25741868 PMID:26908610 PMID:28492532 PMID:31494449 |
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NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
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G |
Rho |
rhodopsin |
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ISO |
ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:7987331 PMID:9380676 PMID:10967073 PMID:25741868 PMID:28492532 PMID:30977563 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 |
Rnf14 |
ring finger protein 14 |
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ISO |
ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:25741868 PMID:30459466 |
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NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
DNA:mutations:multiple: ClinVar Annotator: match by term: Macular dystrophy, concentric annular |
ClinVar RGD |
PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 PMID:19074458 PMID:20696155 PMID:22264887 PMID:22328824 PMID:23443024 PMID:23591405 PMID:23695285 PMID:24342785 PMID:24713488 PMID:24938718 PMID:25082885 PMID:25097241 PMID:25312043 PMID:25525159 PMID:25544989 PMID:25741868 PMID:26261413 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27775217 PMID:28041643 PMID:28118664 PMID:28492532 PMID:28559085 PMID:29310964 PMID:29461686 PMID:29925512 PMID:30576320 PMID:30718709 PMID:32235935 PMID:33546218 PMID:36909829 PMID:36910710 PMID:18024811 More...
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RGD:7829711 |
NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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G |
Crx |
cone-rod homeobox |
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ISO |
ClinVar Annotator: match by term: Benign concentric annular macular dystrophy |
ClinVar |
PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 PMID:28492532 More...
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NCBI chr 1:76,539,812...76,553,694
Ensembl chr 1:76,540,141...76,545,818
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G |
Impg1 |
interphotoreceptor matrix proteoglycan 1 |
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ISO |
ClinVar Annotator: match by term: Benign concentric annular macular dystrophy | ClinVar Annotator: match by term: IMPG1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:32817297 PMID:36909829 More...
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NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:9054934 PMID:9973280 PMID:10880298 PMID:10958761 PMID:16103129 PMID:20335603 PMID:22427542 PMID:22968130 PMID:23134348 PMID:23755871 PMID:23940504 PMID:24265693 PMID:24938718 PMID:25312043 PMID:25346251 PMID:25474345 PMID:25525159 PMID:25698705 PMID:25741868 PMID:26593885 PMID:26780318 PMID:28041643 PMID:28118664 PMID:28224992 PMID:28341476 PMID:28492532 PMID:30060493 PMID:30190494 PMID:30718709 PMID:31522899 PMID:31736247 PMID:32531858 PMID:32783370 PMID:33546218 PMID:33633436 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 |
Abhd12 |
abhydrolase domain containing 12, lysophospholipase |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:24697911 |
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NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564
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G |
Bbs5 |
Bardet-Biedl syndrome 5 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:9536098 PMID:15137946 PMID:17576681 PMID:20498079 PMID:25741868 PMID:28041643 PMID:28492532 PMID:31506453 More...
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NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
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G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:25307992 PMID:25741868 PMID:28041643 PMID:28341476 PMID:28492532 PMID:29525873 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 |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY |
ClinVar |
PMID:28041643 PMID:28492532 PMID:30718709 |
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NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268
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G |
Cdhr1 |
cadherin-related family member 1 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:25741868 PMID:26766544 PMID:28041643 PMID:28492532 PMID:28765526 PMID:30718709 PMID:33546218 PMID:35627310 More...
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NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
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G |
Cerkl |
ceramide kinase-like |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 PMID:22164218 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24625443 PMID:24705292 PMID:25097241 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28492532 PMID:28838317 PMID:30718709 PMID:32531858 PMID:33921607 PMID:34906470 PMID:36909829 PMID:221642182 More...
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NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675
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G |
Cfap410 |
cilia and flagella associated protein 410 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:25741868 PMID:26167768 PMID:26974433 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 PMID:34906470 More...
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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 |
Cnga3 |
cyclic nucleotide gated channel subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:18521937 PMID:25741868 PMID:26493561 PMID:28041643 PMID:28492532 PMID:30289319 PMID:32783370 PMID:32913385 PMID:35332618 PMID:36259723 More...
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NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183
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G |
Crb1 |
crumbs cell polarity complex component 1 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:10508521 PMID:11231775 PMID:17128490 PMID:17297678 PMID:18055816 PMID:19401883 PMID:20301475 PMID:20956273 PMID:23379534 PMID:24033266 PMID:24512366 PMID:25474345 PMID:25741868 PMID:27096895 PMID:27113771 PMID:27258436 PMID:27628848 PMID:28041643 PMID:28181551 PMID:28492532 PMID:28819299 PMID:29391521 PMID:30718709 PMID:33546218 PMID:36909829 More...
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NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
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G |
Gnat2 |
G protein subunit alpha transducin 2 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31058429 |
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NCBI chr 2:195,726,371...195,735,866
Ensembl chr 2:195,726,762...195,735,866
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G |
Guca1a |
guanylate cyclase activator 1A |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY |
ClinVar |
PMID:15505030 PMID:25741868 PMID:28492532 |
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NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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G |
Guca1b |
guanylate cyclase activator 1B |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
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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G |
Gucy2e |
guanylate cyclase 2E |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:8554074 PMID:9618177 PMID:10676808 PMID:10951519 PMID:11115851 PMID:11565546 PMID:12552567 PMID:15175914 PMID:18055820 PMID:18487367 PMID:21602930 PMID:24875811 PMID:25741868 PMID:26298565 PMID:28041643 PMID:28492532 PMID:29178642 PMID:30718709 PMID:31704230 PMID:33546218 PMID:34048777 PMID:34906470 PMID:36909829 More...
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY |
ClinVar |
PMID:16909397 PMID:17896311 PMID:18235024 PMID:21882291 PMID:23885164 PMID:25741868 PMID:28492532 PMID:36909829 More...
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NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
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G |
Mall |
mal, T-cell differentiation protein-like |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:28041643 |
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NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785
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G |
Mtln |
mitoregulin |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:28041643 |
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NCBI chr 3:115,018,810...115,019,668
Ensembl chr 3:115,019,473...115,019,643 Ensembl chr 3:115,019,473...115,019,643
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:29184169 |
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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 |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:28041643 |
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Pde6c |
phosphodiesterase 6C |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:25741868 PMID:36909829 |
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NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
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G |
Pitpnm3 |
PITPNM family member 3 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:25741868 |
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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 |
Prph2 |
peripherin 2 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:8644804 PMID:11139263 PMID:11801511 PMID:17653047 PMID:19038374 PMID:19243827 PMID:22003107 PMID:22334370 PMID:23950152 PMID:25741868 PMID:25999674 PMID:27813578 PMID:28076437 PMID:28224992 PMID:28492532 PMID:28559085 PMID:29155698 PMID:29555955 PMID:30215852 PMID:30718709 PMID:31456290 PMID:32531846 PMID:33546218 PMID:34906036 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 dystrophy |
ClinVar |
PMID:25741868 PMID:36909829 |
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NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967
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G |
Rgr |
retinal G protein coupled receptor |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:10581022 PMID:25741868 PMID:27623334 PMID:28492532 PMID:30337596 PMID:32531858 PMID:34229535 More...
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NCBI chr16:12,801,594...12,816,402
Ensembl chr16:12,801,594...12,816,223
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G |
Rpgr |
retinitis pigmentosa GTPase regulator |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:11857109 PMID:11875055 PMID:22264887 PMID:25741868 PMID:28492532 PMID:29785639 More...
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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 dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 |
Sag |
S-antigen visual arrestin |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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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 |
Srd5a3 |
steroid 5 alpha-reductase 3 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31638560 PMID:32581362 More...
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NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISS |
OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093 |
MouseDO |
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NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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G |
Pde6c |
phosphodiesterase 6C |
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ISO |
ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 PMID:19615668 PMID:19887631 PMID:20301591 PMID:21127010 PMID:23776498 PMID:25326637 PMID:25741868 PMID:26103963 PMID:27124789 PMID:28041643 PMID:28492532 PMID:30080950 PMID:31964843 PMID:32913385 PMID:33001157 PMID:33546218 More...
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NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
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G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
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G |
Abca4 |
ATP binding cassette subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11346402 PMID:11444963 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11857735 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12796258 PMID:14517951 PMID:15108289 PMID:15192030 PMID:15516930 PMID:16103129 PMID:16123440 PMID:16199547 PMID:16303926 PMID:16400609 PMID:17325136 PMID:17325179 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18854780 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19365591 PMID:20029649 PMID:20335603 PMID:20647261 PMID:20696155 PMID:20981092 PMID:21330655 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22312191 PMID:22427542 PMID:22661472 PMID:22661473 PMID:22735453 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23918662 PMID:23940504 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24453473 PMID:24677105 PMID:24713488 PMID:24938718 PMID:25066811 PMID:25082829 PMID:25082885 PMID:25087612 PMID:25097154 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25444351 PMID:25472526 PMID:25474345 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25921964 PMID:26103963 PMID:26247787 PMID:26527198 PMID:26593885 PMID:26720470 PMID:26780318 PMID:26872967 PMID:27014590 PMID:27535533 PMID:27628848 PMID:27739528 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28130426 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29186038 PMID:29310964 PMID:29555955 PMID:29706639 PMID:29847635 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30190494 PMID:30480703 PMID:30563929 PMID:30718709 PMID:31212395 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31522899 PMID:31543898 PMID:31576780 PMID:31618812 PMID:31736247 PMID:31814694 PMID:31964843 PMID:32278709 PMID:32307445 PMID:32531858 PMID:32619608 PMID:32653833 PMID:32717343 PMID:32783370 PMID:33223529 PMID:33258285 PMID:33546218 PMID:33633436 PMID:33841504 PMID:34008892 PMID:34874912 PMID:34906470 PMID:35886001 PMID:35903041 PMID:36471740 PMID:36909829 PMID:38054408 PMID:92952680 More...
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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G |
Acbd5 |
acyl-CoA binding domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
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G |
Adam9 |
ADAM metallopeptidase domain 9 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:19409519 PMID:25741868 PMID:28492532 |
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NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:15322546 PMID:16155189 PMID:16453322 PMID:25525159 PMID:25616960 PMID:25741868 PMID:26035800 PMID:26092869 PMID:28118669 PMID:28442542 PMID:28492532 PMID:29186038 PMID:36819107 More...
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:17594715 PMID:25741868 PMID:26047050 PMID:26077327 PMID:28492532 PMID:29588463 More...
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NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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G |
Arl6 |
ADP-ribosylation factor like GTPase 6 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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G |
Best1 |
bestrophin 1 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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G |
Cabp4 |
calcium binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 PMID:29525873 PMID:29706639 PMID:30718709 PMID:31456290 More...
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NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30576320 PMID:30718709 PMID:36909829 |
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NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
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NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268
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G |
Cdhr1 |
cadherin-related family member 1 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23044944 PMID:23233793 PMID:23591405 PMID:24033266 PMID:25741868 PMID:26103963 PMID:26261414 PMID:27353947 PMID:28224992 PMID:28492532 PMID:28765526 PMID:28885867 PMID:29555955 PMID:30718709 PMID:31387115 PMID:31456290 PMID:32681094 PMID:33546218 PMID:34795310 PMID:34906470 PMID:35260635 PMID:35627310 More...
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NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:16909394 PMID:17345604 PMID:20690115 PMID:25741868 PMID:28492532 PMID:29641573 PMID:30193310 PMID:30718709 PMID:32865313 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Cep78 |
centrosomal protein 78 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 PMID:32531858 More...
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NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
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G |
Cerkl |
ceramide kinase-like |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 PMID:22164218 PMID:23591405 PMID:24043777 PMID:24123366 PMID:24625443 PMID:24705292 PMID:25097241 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28492532 PMID:30718709 PMID:34906470 PMID:36909829 PMID:221642182 More...
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NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675
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G |
Cfap20 |
cilia and flagella associated protein 20 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:35246562 |
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NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558
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G |
Cfap410 |
cilia and flagella associated protein 410 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:27596865 PMID:28492532 PMID:31456290 |
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NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
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G |
Cfap418 |
cilia and flagella associated protein 418 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
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G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
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G |
Cnga1 |
cyclic nucleotide gated channel subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28981474 PMID:30718709 PMID:32531858 More...
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NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065
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Cnga3 |
cyclic nucleotide gated channel subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:11536077 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30289319 PMID:36909829 More...
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NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183
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G |
Cngb3 |
cyclic nucleotide gated channel subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28492532 PMID:28795510 PMID:30544257 PMID:30718709 PMID:32860008 PMID:33546218 PMID:36909829 More...
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NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
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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 degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:32037395 PMID:36909829 PMID:23767994 |
RGD:13451130 |
NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
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G |
Crx |
cone-rod homeobox |
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ISO |
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:9390563 PMID:9427255 PMID:10874321 PMID:10916183 PMID:11748859 PMID:11971869 PMID:24265693 PMID:25741868 PMID:26992781 PMID:28492532 PMID:30543658 PMID:30718709 PMID:31626798 PMID:32533067 PMID:33691693 PMID:36909829 More...
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NCBI chr 1:76,539,812...76,553,694
Ensembl chr 1:76,540,141...76,545,818
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Dram2 |
DNA damage regulated autophagy modulator 2 |
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ISO ISS |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36909829 |
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NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403
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G |
Fam161a |
FAM161 centrosomal protein A |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:20705278 PMID:20705279 PMID:24651477 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26574802 PMID:28492532 PMID:30718709 PMID:34906470 More...
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NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588
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G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:15060128 PMID:19370764 PMID:20301784 PMID:25741868 PMID:28492532 |
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NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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G |
Gphn |
gephyrin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28157192 PMID:28492532 PMID:30134391 PMID:32014858 PMID:36909829 More...
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NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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G |
Guca1a |
guanylate cyclase activator 1A |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:24352742 PMID:25741868 PMID:28492532 PMID:36909829 |
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NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565
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Guca1b |
guanylate cyclase activator 1B |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:24352742 PMID:25741868 |
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NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
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G |
Gucy2e |
guanylate cyclase 2E |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:24875811 PMID:25741868 PMID:26298565 PMID:28041643 PMID:28492532 PMID:30319355 PMID:30718709 PMID:33546218 PMID:34906470 PMID:36909829 More...
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G |
Ift122 |
intraflagellar transport 122 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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Ift88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
Impg2 |
interphotoreceptor matrix proteoglycan 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 PMID:25999675 PMID:26075876 PMID:26092869 PMID:27353947 PMID:28125082 PMID:28492532 PMID:28559085 PMID:29146704 PMID:29186038 PMID:31456290 PMID:32483926 PMID:34188062 PMID:34234304 PMID:36909829 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Itga4 |
integrin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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G |
Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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Lrat |
lecithin retinol acyltransferase |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
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Mc4r |
melanocortin 4 receptor |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:10903341 PMID:12499395 PMID:12690102 PMID:16507637 PMID:16611215 PMID:18559663 PMID:23791567 PMID:25741868 PMID:25741869 PMID:30004997 More...
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NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:36909829 |
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NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971
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G |
Mir103a2 |
microRNA 103a-2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
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NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279
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Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:26316326 PMID:28492532 |
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NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
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Nr2e3 |
nuclear receptor subfamily 2, group E, member 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 PMID:19718767 PMID:21217109 PMID:23591405 PMID:23989059 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:26894784 PMID:27522502 PMID:27573156 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28771251 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30324420 PMID:30718709 PMID:32679203 PMID:34906470 PMID:36909829 More...
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NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
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Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Pank2 |
pantothenate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:11479594 PMID:12510040 PMID:16023068 PMID:28492532 |
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NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
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Pcare |
photoreceptor cilium actin regulator |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:20398886 PMID:24339724 PMID:25741868 PMID:26496393 PMID:28492532 PMID:28763557 More...
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NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169
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Pde6b |
phosphodiesterase 6B |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:30718709 |
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NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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Pde6c |
phosphodiesterase 6C |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
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G |
Pitpnm3 |
PITPNM family member 3 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
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Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25480986 PMID:25741868 PMID:28492532 PMID:31135245 PMID:31712030 More...
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Poc1b |
POC1 centriolar protein B |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 7:33,924,112...34,025,908
Ensembl chr 7:33,924,189...34,025,903
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Prom1 |
prominin 1 |
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ISO |
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:20042663 PMID:23591405 PMID:23757202 PMID:24154662 PMID:24265693 PMID:24474277 PMID:24516651 PMID:25474345 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26261540 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28418496 PMID:28492532 PMID:30588538 PMID:31129250 PMID:31199449 PMID:32531858 PMID:35951719 PMID:36909829 More...
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NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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Prph2 |
peripherin 2 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:7493155 PMID:8015786 PMID:8111389 PMID:8302543 PMID:8485575 PMID:8485576 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9279751 PMID:9331261 PMID:9443872 PMID:9536098 PMID:10193525 PMID:10532447 PMID:11139241 PMID:11704030 PMID:14510799 PMID:14557183 PMID:15370544 PMID:15779916 PMID:16019073 PMID:16113362 PMID:16767206 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17504850 PMID:17576681 PMID:17653047 PMID:17698758 PMID:18310263 PMID:19038374 PMID:19262438 PMID:20213611 PMID:20640437 PMID:21071739 PMID:22183351 PMID:22466463 PMID:22863181 PMID:23950152 PMID:24463884 PMID:24608669 PMID:24629188 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25268133 PMID:25474345 PMID:25675413 PMID:25741868 PMID:25803555 PMID:26061163 PMID:26103963 PMID:26155838 PMID:26161267 PMID:26667666 PMID:26796962 PMID:26842753 PMID:27365499 PMID:27884173 PMID:28492530 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29343940 PMID:29555955 PMID:30718709 PMID:30726412 PMID:30926958 PMID:31213501 PMID:31429209 PMID:31456290 PMID:31574917 PMID:32531846 PMID:32717343 PMID:33546218 PMID:34240658 PMID:34906470 More...
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NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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Rab28 |
RAB28, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:23746546 PMID:25741868 PMID:28492532 PMID:36909829 |
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NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967
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Rbp3 |
retinol binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
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NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006
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Rdh12 |
retinol dehydrogenase 12 |
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ISO |
ClinVar Annotator: match by term: Cone-rod degeneration ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28157192 PMID:28492532 PMID:30134391 PMID:32014858 PMID:36909829 More...
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NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
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Rho |
rhodopsin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:7981701 PMID:8088850 PMID:9380676 PMID:11139241 PMID:12871954 PMID:17488458 PMID:19913029 PMID:21094163 PMID:21219898 PMID:25741868 PMID:28492532 PMID:29847639 PMID:30240733 PMID:30718709 More...
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NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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Rims1 |
regulating synaptic membrane exocytosis 1 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30193310 |
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Rpe65 |
retinoid isomerohydrolase RPE65 |
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