|
G |
Kcna6 |
potassium voltage-gated channel subfamily A member 6 |
|
ISO |
ClinVar Annotator: match by term: Hyperopia |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:159,542,941...159,576,189
|
|
G |
Myrf |
myelin regulatory factor |
|
ISO |
DNA:mutations:multiple: |
RGD |
PMID:36129575 |
RGD:199225554 |
NCBI chr 1:206,854,175...206,886,276
|
|
G |
Nog |
noggin |
|
ISO |
associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human) |
RGD |
PMID:16151340 |
RGD:12801467 |
NCBI chr10:74,625,874...74,627,501
|
|
G |
Topors |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Hypermetropia |
ClinVar |
PMID:25741868 PMID:26720483 PMID:28492532 |
|
NCBI chr 5:55,388,033...55,399,937
|
|
|
G |
Colec11 |
collectin sub-family member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition |
OMIM CTD ClinVar |
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
|
|
NCBI chr 6:45,223,974...45,256,640
|
|
G |
Masp1 |
MBL associated serine protease 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
|
NCBI chr11:77,334,794...77,405,271
|
|
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...
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|
NCBI chr18:54,648,276...54,666,627
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|
|
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 chr12:17,049,766...17,055,954
|
|
G |
Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:215,997,641...216,012,833
|
|
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 chr12:17,055,864...17,064,244
|
|
|
G |
Foxl2 |
forkhead box L2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
CTD ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:20429427 PMID:21325395 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
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|
NCBI chr 8:99,512,971...99,514,500
|
|
|
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 chr 8:99,512,971...99,514,500
|
|
|
G |
Copb2 |
COPI coat complex subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
|
|
NCBI chr 8:99,161,324...99,183,452
|
|
G |
Foxl2 |
forkhead box L2 |
|
ISO ISS |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome | ClinVar Annotator: match by term: FOXL2-related condition OMIM:110100 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:21325395 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33538981 PMID:33796131 PMID:36338666 PMID:39033378 PMID:11175783 More...
|
RGD:1598958 |
NCBI chr 8:99,512,971...99,514,500
|
|
G |
Mrps22 |
mitochondrial ribosomal protein S22 |
|
ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
|
|
NCBI chr 8:99,184,110...99,197,278
|
|
|
G |
Mafb |
MAF bZIP transcription factor B |
|
ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr 3:169,417,890...169,419,810
|
|
G |
Togaram1 |
TOG array regulator of axonemal microtubules 1 |
|
ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr 6:88,755,264...88,819,599
|
|
G |
Tubb4a |
tubulin, beta 4A class IVa |
|
ISO |
ClinVar Annotator: match by term: Brown syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr 9:1,917,841...1,925,286
|
|
|
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 8:37,133,542...37,151,674
|
|
|
G |
Actr1b |
actin related protein 1B |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:38,928,819...38,938,483
|
|
G |
Chn1 |
chimerin 1 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Duane retraction syndrome OMIM:126800 | OMIM:604356 |
CTD ClinVar MouseDO |
PMID:25741868 |
|
NCBI chr 3:58,509,822...58,676,462
|
|
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 chr 8:109,604,877...109,637,249
|
|
G |
Cux1 |
cut-like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:20,107,062...20,425,868
|
|
G |
Fer |
FER tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:110,967,317...111,274,315
|
|
G |
Foxl2 |
forkhead box L2 |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr 8:99,512,971...99,514,500
|
|
G |
Gnas |
GNAS complex locus |
|
ISO |
ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:183,489,648...183,554,570
|
|
G |
Kif5c |
kinesin family member 5C |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:54,441,266...54,591,630
|
|
G |
Mafb |
MAF bZIP transcription factor B |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:126800 | OMIM:604356 |
CTD MouseDO |
|
|
NCBI chr 3:169,417,890...169,419,810
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr12:41,026,079...41,085,577
|
|
G |
Sall4 |
spalt-like transcription factor 4 |
|
ISO |
DNA:snps, deletions, insertion:multiple (human) CTD Direct Evidence: marker/mechanism DNA:duplication:cds:c.410dupG (human) DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) DNA:nonsense mutation:cds:p.R905X (human) DNA:frameshift mutation:cds:p.M640IfsX25 (human) |
CTD RGD |
PMID:16402211 PMID:30067223 PMID:12393809 PMID:26791099 PMID:12395297 PMID:16411190 PMID:17216607 PMID:23687435 More...
|
RGD:11556210, RGD:11532205, RGD:11556232, RGD:11556231, RGD:11556215, RGD:11556211 |
NCBI chr 3:157,474,067...157,491,055
|
|
G |
Tuba8 |
tubulin, alpha 8 |
|
ISO |
ClinVar Annotator: match by term: Duane retraction syndrome |
ClinVar |
PMID:25741868 PMID:39033378 |
|
NCBI chr 4:156,110,562...156,129,065
|
|
|
G |
Mafb |
MAF bZIP transcription factor B |
|
ISO |
ClinVar Annotator: match by term: Duane syndrome type 1 |
ClinVar |
PMID:27181683 |
|
NCBI chr 3:169,417,890...169,419,810
|
|
|
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 chr 3:58,509,822...58,676,462
|
|
|
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 3:169,417,890...169,419,810
|
|
|
G |
Tfap2a |
transcription factor AP-2 alpha |
|
ISO |
ClinVar Annotator: match by term: Esotropia |
ClinVar |
PMID:25741868 |
|
NCBI chr17:24,230,064...24,253,219
|
|
|
G |
Auts2 |
activator of transcription and developmental regulator AUTS2 |
|
ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:24,104,187...25,194,123
|
|
G |
Cdh3 |
cadherin 3 |
|
ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,393,596...34,444,084
|
|
G |
Col4a2 |
collagen type IV alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
PMID:28492532 |
|
NCBI chr16:78,047,591...78,183,360
|
|
G |
Herc2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: concomitant exotropia |
ClinVar |
|
|
NCBI chr 1:106,904,789...107,110,997
|
|
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 chr18:70,817,962...70,970,606
|
|
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 chr 8:130,522,607...130,538,273
|
|
|
G |
Tomm7 |
translocase of outer mitochondrial membrane 7 |
|
ISO |
ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome |
ClinVar OMIM |
PMID:36282599 PMID:36299998 |
|
NCBI chr 4:12,197,503...12,204,344
|
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
DNA:missense, deletion, duplication mutations:cds: |
RGD |
PMID:26583794 |
RGD:11076374 |
NCBI chr 8:44,445,636...44,450,859
|
|
|
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 chr20:48,064,445...48,243,607
|
|
|
G |
Myrf |
myelin regulatory factor |
|
ISO |
ClinVar Annotator: match by term: Nanophthalmos 1 |
ClinVar |
|
|
NCBI chr 1:206,854,175...206,886,276
|
|
|
G |
Tmem98 |
transmembrane protein 98 |
|
ISO |
ClinVar Annotator: match by term: Nanophthalmos 4 |
OMIM ClinVar |
PMID:24852644 PMID:26392740 |
|
NCBI chr10:65,796,173...65,807,082
|
|
|
G |
Ahctf1 |
AT hook containing transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
|
|
NCBI chr13:91,481,936...91,536,391
|
|
G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
|
RGD |
PMID:14710472 |
RGD:8699500 |
NCBI chr15:22,098,191...22,113,145
|
|
G |
Foxp1 |
forkhead box P1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:133,117,346...133,808,647
|
|
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 chr 5:171,357,778...171,424,489
|
|
G |
Med13l |
mediator complex subunit 13L |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
|
NCBI chr12:37,807,596...38,004,886
|
|
G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:21520333 PMID:25741868 PMID:28492532 PMID:33471991 |
|
NCBI chr10:64,803,986...65,037,086
|
|
G |
Olfm3 |
olfactomedin 3 |
|
ISO |
ClinVar Annotator: match by term: Strabismus, susceptibility to |
ClinVar |
|
|
NCBI chr 2:202,729,610...202,952,120
|
|
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 chr12:41,026,079...41,085,577
|
|
G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 |
|
NCBI chr 8:109,207,705...109,215,738
|
|
G |
Smarca4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:28,438,370...28,535,071
|
|
G |
Sox3 |
SRY-box transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
|
NCBI chr X:139,308,608...139,310,687
|
|
G |
Sox5 |
SRY-box transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Strabismus |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:178,512,272...179,467,686
|
|
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 chr 3:16,076,725...16,138,431
|
|
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 chr13:81,993,172...82,016,496
|
|
|
G |
Nog |
noggin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome DNA:missense mutation:cds:c.682T>G (p.C228G)(human) |
OMIM CTD ClinVar RGD |
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 PMID:17668388 PMID:25741868 PMID:28492532 PMID:29159868 PMID:26211601 More...
|
RGD:12801450 |
NCBI chr10:74,625,874...74,627,501
|
|