|
G |
AHCTF1 |
AT-hook containing transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
|
|
NCBI chr25:83,889,934...83,978,965
Ensembl chr25:83,892,508...83,978,935
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
ISO |
|
RGD |
PMID:14710472 |
RGD:8699500 |
NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225
|
|
G |
FOXP1 |
forkhead box P1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
|
NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502
|
|
G |
GNB1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 PMID:35253369 PMID:36405774 More...
|
|
NCBI chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667
|
|
G |
MED13L |
mediator complex subunit 13L |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
|
NCBI chr11:111,245,201...111,563,485
Ensembl chr11:111,243,753...111,563,663
|
|
G |
NF1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:21520333 PMID:25741868 PMID:28492532 PMID:33471991 |
|
NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
|
|
G |
OLFM3 |
olfactomedin 3 |
|
ISO |
ClinVar Annotator: match by term: Strabismus, susceptibility to |
ClinVar |
|
|
NCBI chr20:31,365,222...31,565,127
Ensembl chr20:31,530,708...31,562,665
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 PMID:20186801 PMID:21590266 PMID:22465605 PMID:22781091 PMID:23624134 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29493581 More...
|
|
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
|
|
G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 |
|
NCBI chr22:10,497,921...10,507,673
Ensembl chr22:10,497,658...10,507,325
|
|
G |
SMARCA4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:9,943,162...10,044,476
|
|
G |
SOX3 |
SRY-box transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
|
NCBI chr X:115,608,059...115,610,248
Ensembl chr X:115,608,810...115,610,150
|
|
G |
SOX5 |
SRY-box transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
|
NCBI chr11:23,298,622...24,131,712
Ensembl chr11:23,303,325...23,715,492
|
|
G |
STXBP1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
|
|
NCBI chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777
|
|
G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
|
NCBI chr25:63,110,626...63,150,602
Ensembl chr25:63,110,772...63,150,017
|
|
|
G |
COLEC11 |
collectin subfamily member 11 |
|
ISO |
ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition |
OMIM ClinVar |
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
|
|
NCBI chr14:104,002,207...104,057,372
Ensembl chr14:104,002,211...104,057,174
|
|
G |
MASP1 |
MBL associated serine protease 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
|
NCBI chr15:81,488,306...81,563,302
Ensembl chr15:81,488,099...81,563,679
|
|
G |
SLC26A2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: OSA syndrome |
ClinVar |
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 More...
|
|
NCBI chr23:52,565,322...52,598,237
Ensembl chr23:52,565,409...52,592,657
|
|
|
G |
AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
|
ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr28:12,971,007...12,976,914
Ensembl chr28:12,971,297...12,976,779
|
|
G |
LARP7 |
La ribonucleoprotein 7, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080
|
|
G |
TAF6 |
TATA-box binding protein associated factor 6 |
|
ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition |
OMIM ClinVar |
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 |
|
NCBI chr28:12,958,555...12,971,100
Ensembl chr28:12,963,609...12,973,368
|
|
|
G |
FOXL2 |
forkhead box L2 |
|
ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:21325395 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
|
|
NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348
|
|
|
G |
FOXL2 |
forkhead box L2 |
|
ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:21325395 PMID:25741868 PMID:28492532 PMID:31077882 PMID:33538981 More...
|
|
NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348
|
|
|
G |
COPB2 |
COPI coat complex subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
|
|
NCBI chr15:51,165,275...51,197,971
|
|
G |
FOXL2 |
forkhead box L2 |
|
ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome | ClinVar Annotator: match by term: FOXL2-related condition |
OMIM ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:21325395 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33538981 PMID:33796131 PMID:36338666 PMID:39033378 More...
|
|
NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348
|
|
G |
MRPS22 |
mitochondrial ribosomal protein S22 |
|
ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
|
|
NCBI chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532
|
|
|
G |
MAFB |
MAF bZIP transcription factor B |
|
ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684
|
|
G |
TOGARAM1 |
TOG array regulator of axonemal microtubules 1 |
|
ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr24:22,078,938...22,195,923
Ensembl chr24:22,078,158...22,195,917
|
|
G |
TUBB4A |
tubulin beta 4A class IVa |
|
ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr 6:6,104,265...6,111,966
Ensembl chr 6:6,094,130...6,111,762
|
|
|
G |
ROBO3 |
roundabout guidance receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Conjugate gaze palsy |
ClinVar |
PMID:15105459 PMID:16525029 PMID:21850172 PMID:25741868 PMID:32373565 PMID:34374989 More...
|
|
NCBI chr 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474
|
|
|
G |
ACTR1B |
actin related protein 1B |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr14:1,342,290...1,350,496
Ensembl chr14:1,342,100...1,350,197
|
|
G |
CHN1 |
chimerin 1 |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:60,334,829...60,540,309
Ensembl chr10:60,331,214...60,488,785
|
|
G |
COL7A1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 PMID:22058051 PMID:25741868 PMID:27746867 PMID:28492532 More...
|
|
NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
|
|
G |
CUX1 |
cut like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr28:10,901,529...11,370,834
Ensembl chr28:10,937,512...11,370,702
|
|
G |
FER |
FER tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr23:12,252,135...12,629,584
Ensembl chr23:12,192,800...12,620,443
|
|
G |
FOXL2 |
forkhead box L2 |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348
|
|
G |
KIF5C |
kinesin family member 5C |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:34,285,048...34,441,918
Ensembl chr10:34,285,037...34,444,863
|
|
G |
LOC103243509 |
neuroendocrine secretory protein 55 |
|
ISO |
ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192
|
|
G |
MAFB |
MAF bZIP transcription factor B |
|
ISO |
CTD Direct Evidence: marker/mechanism OMIM:126800 | OMIM:604356 |
CTD MouseDO |
|
|
NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
|
|
G |
SALL4 |
spalt like transcription factor 4 |
|
ISO |
DNA:frameshift mutation:cds:p.M640IfsX25 (human) DNA:nonsense mutation:cds:p.R905X (human) DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) DNA:duplication:cds:c.410dupG (human) DNA:snps, deletions, insertion:multiple (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:12393809 PMID:12395297 PMID:16402211 PMID:16411190 PMID:17216607 PMID:23687435 PMID:26791099 PMID:30067223 More...
|
RGD:11532205 RGD:11556210 RGD:11556211 RGD:11556215 RGD:11556231 RGD:11556232 |
NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321
|
|
|
G |
MAFB |
MAF bZIP transcription factor B |
|
ISO |
ClinVar Annotator: match by term: Duane syndrome type 1 |
ClinVar |
PMID:27181683 |
|
NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684
|
|
|
G |
CHN1 |
chimerin 1 |
|
ISO |
ClinVar Annotator: match by term: CHN1-related condition | ClinVar Annotator: match by term: Duane retraction syndrome 2 |
OMIM ClinVar |
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 PMID:21555619 PMID:25741868 PMID:28492532 PMID:39033378 More...
|
|
NCBI chr10:60,334,829...60,540,309
Ensembl chr10:60,331,214...60,488,785
|
|
|
G |
MAFB |
MAF bZIP transcription factor B |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness |
OMIM ClinVar |
PMID:20436469 PMID:24989131 PMID:25741868 PMID:27181683 PMID:28492532 |
|
NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684
|
|
|
G |
TFAP2A |
transcription factor AP-2 alpha |
|
ISO |
ClinVar Annotator: match by term: Esotropia |
ClinVar |
PMID:25741868 |
|
NCBI chr17:61,750,757...61,769,041
|
|
|
G |
AUTS2 |
activator of transcription and developmental regulator AUTS2 |
|
ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr28:4,565,958...5,759,088
Ensembl chr28:4,567,622...4,595,056
|
|
G |
CDH3 |
cadherin 3 |
|
ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,717,600...58,775,033
Ensembl chr 5:58,717,597...58,775,339
|
|
G |
COL4A2 |
collagen type IV alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:88,564,328...88,760,191
Ensembl chr 3:88,563,903...88,760,411
|
|
G |
HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
|
|
NCBI chr26:53,760,172...54,007,356
Ensembl chr26:53,792,593...54,007,489
|
|
G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
|
ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 |
|
NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532
|
|
G |
POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
|
ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr22:4,521,925...4,548,431
|
|
|
G |
SOBP |
sine oculis binding protein homolog |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition |
OMIM ClinVar |
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 |
|
NCBI chr13:66,202,747...66,374,992
Ensembl chr13:66,227,944...66,374,736
|
|