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G |
AHCTF1 |
AT-hook containing transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
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NCBI chr 7:37,550,045...37,627,428
Ensembl chr 7:37,543,496...37,627,131
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G |
BMP4 |
bone morphogenetic protein 4 |
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ISO |
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RGD |
PMID:14710472 |
RGD:8699500 |
NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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G |
FOXP1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
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G |
GNB1 |
G protein subunit beta 1 |
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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...
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NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
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G |
MED13L |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512
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G |
NF1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:21520333 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 PMID:33471991 More...
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NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
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G |
OLFM3 |
olfactomedin 3 |
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ISO |
ClinVar Annotator: match by term: Strabismus, susceptibility to |
ClinVar |
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NCBI chr 6:48,259,403...48,453,110
Ensembl chr 6:48,259,545...48,446,363
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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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...
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NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 |
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NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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G |
SOX3 |
SRY-box transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr X:110,361,354...110,363,458
Ensembl chr X:110,362,124...110,363,458
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G |
SOX5 |
SRY-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
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NCBI chr27:22,857,661...23,855,709
Ensembl chr27:23,452,985...23,851,380
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G |
STXBP1 |
syntaxin binding protein 1 |
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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...
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NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680
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G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
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NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283
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G |
COLEC11 |
collectin subfamily member 11 |
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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...
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NCBI chr17:2,147,679...2,180,096
Ensembl chr17:2,147,882...2,180,098
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G |
MASP1 |
MBL associated serine protease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr34:19,689,426...19,750,669
Ensembl chr34:19,691,630...19,750,587
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G |
SLC26A2 |
solute carrier family 26 member 2 |
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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...
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NCBI chr 4:59,068,601...59,090,803
Ensembl chr 4:59,074,008...59,078,892
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G |
AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:9,488,496...9,492,703
Ensembl chr 6:9,486,372...9,492,243
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G |
LARP7 |
La ribonucleoprotein 7, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131
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G |
TAF6 |
TATA-box binding protein associated factor 6 |
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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 |
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NCBI chr 6:9,475,132...9,488,611
Ensembl chr 6:9,479,884...9,488,561
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G |
FOXL2 |
forkhead box L2 |
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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...
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NCBI chr23:35,145,856...35,147,185
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G |
FOXL2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:21325395 PMID:25741868 PMID:28492532 PMID:31077882 PMID:33538981 More...
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NCBI chr23:35,145,856...35,147,185
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G |
COPB2 |
COPI coat complex subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr23:35,536,520...35,604,708
Ensembl chr23:35,536,615...35,566,569
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G |
FOXL2 |
forkhead box L2 |
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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...
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NCBI chr23:35,145,856...35,147,185
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G |
MRPS22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr23:35,508,478...35,536,081
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G |
MAFB |
MAF bZIP transcription factor B |
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ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948
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G |
TOGARAM1 |
TOG array regulator of axonemal microtubules 1 |
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ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr 8:22,420,718...22,499,435
Ensembl chr 8:22,420,584...22,497,671
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G |
TUBB4A |
tubulin beta 4A class IVa |
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ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349
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G |
ROBO3 |
roundabout guidance receptor 3 |
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ISO |
ClinVar Annotator: match by term: Conjugate gaze palsy |
ClinVar |
PMID:15105459 PMID:16525029 PMID:21850172 PMID:25741868 PMID:32373565 PMID:34374989 More...
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NCBI chr 5:9,563,353...9,579,111
Ensembl chr 5:9,563,345...9,579,289
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G |
ACTR1B |
actin related protein 1B |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:44,964,979...44,972,607
Ensembl chr10:44,899,103...44,972,613
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G |
CHN1 |
chimerin 1 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr36:18,785,470...18,990,409
Ensembl chr36:18,786,073...18,980,993
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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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...
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NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
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G |
CUX1 |
cut like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:7,820,154...8,108,236
Ensembl chr 6:7,820,764...8,195,631
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G |
FER |
FER tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:2,863,804...3,295,999
Ensembl chr 3:2,867,726...3,295,999
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G |
FOXL2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr23:35,145,856...35,147,185
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G |
GNAS |
GNAS complex locus |
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ISO |
ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
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G |
KIF5C |
kinesin family member 5C |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:50,535,622...50,684,485
Ensembl chr19:50,535,456...50,668,738
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G |
MAFB |
MAF bZIP transcription factor B |
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ISO |
CTD Direct Evidence: marker/mechanism OMIM:126800 | OMIM:604356 |
CTD MouseDO |
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NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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G |
SALL4 |
spalt like transcription factor 4 |
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ISO |
DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) DNA:frameshift mutation:cds:p.M640IfsX25 (human) CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:cds:p.R905X (human) DNA:snps, deletions, insertion:multiple (human) DNA:duplication:cds:c.410dupG (human) |
RGD CTD |
PMID:12393809 PMID:12395297 PMID:16402211 PMID:16411190 PMID:17216607 PMID:23687435 PMID:26791099 PMID:30067223 More...
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RGD:11532205 RGD:11556210 RGD:11556211 RGD:11556215 RGD:11556231 RGD:11556232 |
NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287
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G |
TUBA8 |
tubulin alpha 8 |
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ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
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NCBI chr27:45,706,576...45,725,679
Ensembl chr27:45,675,472...45,725,681
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G |
MAFB |
MAF bZIP transcription factor B |
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ISO |
ClinVar Annotator: match by term: Duane syndrome type 1 |
ClinVar |
PMID:27181683 |
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NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948
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G |
CHN1 |
chimerin 1 |
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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...
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NCBI chr36:18,785,470...18,990,409
Ensembl chr36:18,786,073...18,980,993
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G |
MAFB |
MAF bZIP transcription factor B |
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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 |
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NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948
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G |
TFAP2A |
transcription factor AP-2 alpha |
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ISO |
ClinVar Annotator: match by term: Esotropia |
ClinVar |
PMID:25741868 |
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NCBI chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270
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G |
AUTS2 |
activator of transcription and developmental regulator AUTS2 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:2,747,288...3,875,774
Ensembl chr 6:2,748,598...3,875,611
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G |
CDH3 |
cadherin 3 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:80,864,859...80,912,136
Ensembl chr 5:80,863,661...80,913,019
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G |
COL4A2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
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NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297
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G |
HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
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NCBI chr 3:31,723,113...31,966,061
Ensembl chr 3:31,723,500...31,966,199
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G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 |
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NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
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G |
POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214
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G |
SOBP |
sine oculis binding protein homolog |
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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 |
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NCBI chr12:64,653,814...64,794,144
Ensembl chr12:64,664,288...64,794,358
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